Sponsor: CHDI

Enroll-HD is an observational study for HD families actively recruiting in North America, Latin America, Europe, Australia, New Zealand and some countries in Asia. The Enroll-HD dataset and biosamples are available for research. More.

The Enroll-HD study can serve as a platform for other research studies which makes it faster and more efficient for researchers to set up new projects.

HD Clarity

Sponsor: UCL

This is a multi-site cerebrospinal fluid collection initiative to facilitate identification of biomarkers in Huntington’s disease. More.

The HD Young Adult Study (HD-YAS)

Sponsor: UCL

Aim: To find the earliest time point at which any HD-related changes can be found in young-adult gene carriers. More.

Enteric Nervous System in Huntington’s Disease (HD): neglected phenotypes as possible new disease modifiers

While brain alterations have been deeply characterized in HD, a number of less described, but strongly disabling symptoms, such as weight loss and gastrointestinal (GI) dysfunction, significantly impact patients’ life quality. Here, we propose to characterize the alterations in enteric nervous system (ENS) – controlling GI motility, secretions, and functionality – taking advantage of the HD mice, which faithfully mirror the genetics of the HD mutation. This study will be crucial not only for disentangling a new piece of HD biology, but furthermore to identify new targets to alleviate HD peripheral symptoms, thus ultimately improving HD patients’ life quality.

Author: Marta Biagioli

Approved: January 2023

Prenatal effects of mutant Huntingtin

Even though most Huntington’s (HD) symptoms appear in later life, the genetic cause is present from conception and may impact fetal and placental development. Early developmental changes may sow the seed for clinical symptoms experienced in adulthood, but very little is known about the role of huntingtin during this time.
This project will use a Huntington’s mouse model to look for differences in the embryonic brain and its placenta for the first time.
Evidence that mutant Huntingtin could alter how the placenta influences brain development could provide a new direction for potential preventative treatment options.

Author: David Harrison

Approved: January 2022

Investigation into the interplay between prion-like spreading of mutant huntingtin and somatic CAG expansion

HD results from inheritance of a mutant mHTT gene with CAG repeats of >=36. Additionally, through a patient’s life, two processes increase the mHTT pathogenic burden. Firstly, continued repeat expansion occurs such that tissues become mosaic with increasing numbers of cells expressing mHTT with much longer CAG repeats. Secondly, pathogenic mHTT protein transfers from one cell to another to spread disease across brain regions. This project uses stem cell models to address a novel hypothesis that mHTT protein transfer interacts with DNA repair modifier pathways and acts as a driver to increase CAG repeat expansion rates in receiving cells.

Author: Nicholas Allen

Approved: May 2021

Examining Fyn/Src in Huntington’s disease cell models

Huntington’s disease (HD) is a genetic neurodegenerative disorder caused by expression of mutant huntingtin (mHTT) that largely affects the striatum and later the cortex. Striatal glutamatergic synapse deregulation and mitochondrial dysfunction linked to redox changes are relevant HD pathological events. Interestingly, these processes are also influenced by Fyn/Src kinases. However, the role of Fyn/Src in HD-related neuronal dysfunction is scarce. Thus, in this study, we aim to define the impact of Fyn/Src levels in HD models by focusing on glutamatergic dendrites and as mitochondrial modulator(s). This project is expected to expand the current understanding of early neuropathological mechanism(s) in HD.

Author: Ana Cristina Carvalho REGO

Approved: January 2021

Astrocytes at the hub of neuronal dysfunction in Huntington´s disease: Dissecting the role of ARMS/kidins 220 on astrocyte secretome

Most aspects of nervous system function rely on neuron-glia crosstalk, particularly astrocytes. This neuronal-astrocyte communication implies the release of different factors that may influence both cell types and modulate neuronal function. This proposal is aimed to understand the contribution of astrocyte-secretome alterations in HD striatal pathology. We are interested to decipher whether HD pathology relies on neuronal-autonomous processes or whether astrocyte-neuron crosstalk is playing an essential role. We postulate that deficient BDNF release by astrocytes as well as abnormal astrocytic inflammatory signature due to aberrant ARMS/kidins220 expression would play a major role in loss of striatal neuroprotection and therefore striatal dysfunction.

Author: Silvia Gines Padrós

Approved: May 2020

circHTT, a circular RNA from the HTT locus: functional characterization and possible therapeutic applications

Innovative strategies aimed at lowering mutant huntingtin are under careful investigation as therapeutic intervention for Huntington’s Disease (HD). Our work frames into this focus area and proposes to evaluate circHTT, highly stable circularized RNA molecule originated from the HTT transcript, as possible modulator of mutant huntingtin levels. Thus, our work represents a compelling hypothesis to define new HD biology, but also, to potentially identify a new tool of intervention to modulate HD pathogenesis.

Author: Marta Biagioli

Approved: January 2019

Whole genome sequencing to identify novel rare variants that modify Huntington’s disease onset

The overall goal of this study is to identify genetic variants with effects on HD disease onset. We will perform whole-genome sequencing to identify novel variants, which while rare in the general population, may be important modifiers of age of onset in HD. The power to detect association will be maximized by using the HD cohort collected at the University of Copenhagen, an exclusive family-based HD cohort, and by implementing a careful study design and advanced bioinformatic approaches to analyze the data. This work will identify novel HD modifier genes and provide new basic mechanistic insights into the disease etiology of HD and will thus open new venues for targeted drug design.

Authors: Kristina Becanovic, Anne Nørremølle

Approved: January 2019

Role of primary cilia in striatal neurons for their vulnerability to degeneration in Huntington’s disease

Primary cilia are non-motile microtubule-based organelles resembling a cellular antenna that can act as a reservoir for mutant huntingtin (mHTT). Increased mHTT results in increased ciliogenesis. Here we will test the hypothesis that primary cilia pathology plays a role in the differential vulnerability of striatal medium spiny neurons (MSNs) in HD. We will monitor neuron- and stage-specific changes of primary cilia structure in HD mouse models. Concomitantly, we will analyze the neuropathological effects of primary cilia deficits in HD mice lacking primary cilia in MSNs. The results could help to identify new factors causing MSN degeneration and modifying HD progression.

Author: Rosanna Parlato

Approved: April 2017

The role of microRNA regulation in a Drosophila model of Huntington Disease

Recent studies in mice, monkeys and humans show that small non-coding RNAs (microRNAs) are differentially expressed in Huntington Disease (HD) brains. Yet, the biological roles exerted by microRNAs in HD remain largely unclear. Here we investigate this problem using a Drosophila model of HD where we will test the roles played by microRNAs on the disease. Drosophila is an excellent system to study this problem due to its unmatched genetics, imaging tools and the detailed understanding of neural development in this organism. Our work will contribute to establish whether microRNA-based approaches might be of potential use in future HD therapies.

Author: Claudio Alonso

Approved: May 2016

The role of SMAD-dependent TGFβ signalling in transcriptional dysregulation in early stage models of HD

SMAD proteins are major regulators of gene expression that act within the transforming growth factor-beta (TGFβ) signalling pathway. Preliminary data has revealed potential differences in this pathway in a cell model of HD. This project aims to characterise the role of SMAD proteins in mouse and human cell models of HD by comparing their expression, localisation and activity, as well as by manipulating the TGFβ pathway in order to determine whether it may contribute to the altered gene expression that is observed in HD.

Author: Kathryn Bowles

Approved: January 2014

Unbiased prioritarization of neuroprotective targets for HD
A project developed by the Biological Modifiers Working Group at EHDN

The aim of this project is to develop data integration and network analysis to prioritize neuroprotective targets in HD. Huntington’s disease is extensively studied thanks to models that were developed in several species and that recapitulate complementary components of HD pathogenesis. Genome-wide analyses in these models have generated a large amount of data with high potential for target selection. The comprehensive and unbiased integration of ‘omics data’ on HD will allow better decisions in candidate target selection to be reached. Selecting for gene networks, modules and strings that are consistently highlighted by different model systems as ‘targets’ and/or ‘modifiers’ of mutant huntingtin activity may provide a strong basis to develop neuroprotective strategies that may be efficient against several stages and/or key features of HD. This concerted action involves the laboratories of Juan Botas, Bob Hughes, Lesley Jones, Ruth Luthi-Carter, Christian Neri and Shen Zhang.

Author: Christian Neri

Approved: January 2009

Exploring the Role of Meningeal Immune Alteration in Huntington’s Disease

At the Crossroads of Brain and Body: Exploring the Meninges in HD

This research explores the role of meningeal immunity in Huntington’s disease (HD). While the immune system and inflammation are known to influence HD, the specific involvement of meningeal immunity has not yet been studied. Using a mouse model and flow cytometry analysis, we examine changes in meningeal immune cells. The meninges, previously seen as just a protective barrier, are now known to play a key role in brain health, immune surveillance, and inflammation. By studying this in the context of HD, our work aims to uncover new insights into HD’s complex pathology.

Author: Maria Björkqvist

Approved: January 2024

A pilot study of a novel molecular assay to quantify DNA repair synthesis in the HTT exon 1 as readout of somatic instability in Huntington´s Disease

Huntington’s disease (HD) worsens as CAG repeats in the huntingtin gene (HTT) expand. DNA repair might be involved, making it a target for treatments. But measuring these changes in peripheral tissues is tough. We propose a new test based on the idea that if DNA repair in HTT repeats or nearby happens more often then the repeat itself gets longer. In this project we will explore this innovative approach that measures the incorporation of a molecule called EdU during repair activity of HTT exon1. This new assay might offer a potentially new and sensitive way to track HD progression in peripheral tissues such as blood and skin fibroblasts, even before onset.

Author: Veronica Britto

Approved: April 2023

Identification of regional neuronal and glial cell-specific proteome disturbances in HD mice

The brain cells including neurons, astrocytes, microglia, and oligodendrocytes play specific roles in Huntington’s disease, but the extent of their contributions to disease progression is not completely clear. We aim to identify regional and cell-specific protein changes to pinpoint causal events leading to selective cellular and regional impairment. Using mass-spectrometry, proteins from striatal and cortical brain cells isolated from adult HD mice will be investigated to advance our understanding of the complex interplay between these cells, define new targets for therapeutic intervention, and discover novel biomarkers for monitoring disease progression.

Author: Niels Henning Skotte

Approved: January 2023

Bayesian deep-learning-based de-novo prediction and affinity-based mass spectrometry identification of protein interactors of huntingtin and HAP40

Until recently, predicting the shape of a protein from its amino acid sequence was considered impossible. However, scientists have recently achieved this with using artificial intelligence (AI). With the aim, to identify new proteins interacting with Huntingtin (HTT) and its partner protein huntingtin-associated protein 40 (HAP40), both proteins forming a tight complex in cells, we will generate a novel computational model for predicting such interactions and we will experimentally verify the data in the laboratory. In parallel to this work on artificial intelligence, we will also use biochemical methods as the starting point to identify novel protein interactors of HTT and HAP40. The confirmation of known and the identification of so far unknown interactors may help to understand their function in health and disease, connected to HTT and HAP40, to discover new HD biomarkers and to identify new therapeutic targets.

Author: Stefan Kochanek

Approved: May 2022

Development and evaluation of a method for live-cell imaging of Ca2+ fluxes in myoblasts

There is no process in the cell that does not involve intracellular calcium (Ca2+). Ca2+ acts as a signaling molecule, and in mature muscles, Ca2+ rises control cell contractility. The fusion of satellite cells forms the skeletal muscle, and the satellite cells are responsible for both the development and renewal of muscles. Thus the loss of Ca2+ homeostasis may be causative of muscle pathology observed in Huntington’s disease (HD). We will establish a quantitative analytical platform to investigate intracellular Ca2+ fluxes in live satellite cells from HD mouse models and HD patients to analyze the changes during disease progression.

Author: Rana Soylu Kucharz

Approved: May 2020

Exploring striatal postsynaptic SAPAP3 in Huntington’s disease

SAPAP3 is highly expressed in striatum, a brain area selectively affected in Huntington’s disease (HD). Modified SAPAP3 was associated with obsessive-compulsive disorder, an early/pre-motor symptom exhibited by HD patients. However, the role of SAPAP3 in HD was not explored yet. Here we will monitor changes in SAPAP3 in striatal versus cortical postsynaptic density and determine how SAPAP3 affects glutamatergic dendrites and related mitochondrial function and dynamics in animal and cell models of HD, and postmortem HD brain samples. The proposal is expected to unravel SAPAP3 as a novel player in striatal glutamatergic postsynapse and mitochondrial dysfunction in early HD stages.

Author: Ana Cristina Carvalho REGO

Approved: January 2018

The association of nucleolar activity with mutant huntingtin protein species in HD

Transcriptional dysregulation is known in HD. Here we will test the hypothesis that changes in ribosomal DNA (rDNA) transcription in the nucleolus are early signs of transcriptional dysregulation by mutant huntingtin (mHTT). By a systematic analysis of nucleolar transcription in HD models and tissue biopsies at different stages, we aim at identifying a sensitive metabolic marker linked to mHTT. The results could help to test the efficacy of ongoing therapeutic strategies aiming at lowering mHTT levels in specific cells. Concomitantly, the tissue-specific impact of mHTT on rRNA transcriptional dysregulation might account for the still unexplained variability in HD onset.

Author: Rosanna Parlato

Approved: September 2015

The role of microRNA-34 in cancer defense- and HD pathogenic mechanisms

The frequency of cancer in HD patients is only half of what is expected from population studies, and this applies to all forms of cancer. This is also true for other polyQ disease patients, which indicates that CAG repeat expansions have protective effects against the initial steps in tumor formation. The microRNA, miR-34, is well-known as a tumor suppressor that protects against uncontrolled cell growth, and it may be involved, in some situations, in cell death. We investigate the role of miR-34 in cancer defense and neurodegeneration by studying HD patients, transgenic HD mice and a cell model.

Author: Lis Hasholt

Approved: January 2014

Muscle pathology in HD as a source for biomarkers?

Peripheral manifestations of HD may provide an easily accessible and valuable source of HD biomarkers. Muscle wasting is a well-recognised phenomenon in patients with HD and worsens with disease progression. Interestingly, inflammatory processes can be linked to the development of muscle atrophy and immune activation in peripheral blood monocytes can be seen in HD. In this project, we will investigate the relationship between immune activation and muscle wasting in HD. We will study muscle pathology in relation to inflammatory cytokines in HD mouse models and in patients with juvenile onset of HD.

Author: Maria Bjorkqvist

Approved: July 2010

Visualising the peptidase IDE at work in Huntington’s Disease

HD is hallmarked by the aggregation of mutant huntingtin protein fragments. Improving the degradation of these toxic fragments would be a therapeutic strategy to delay or prevent disease onset. Recently, we discovered that Insulin Degrading Enzyme (IDE) is well capable to degrade the mutant sequence, yet we lack specific activity based probes (ABPs) to visualize and quantify IDE activity in cells, tissues and biochemical assays. Monique Mulder (LUMC), Sabine Schipper-Krom and Eric Reits (AmsterdamUMC) will develop and synthesize selective IDE ABPs to study the role of IDE in degrading mutant huntingtin in HD neuronal cell and tissue models.

Author: Eric Reits

Approved: May 2022

Nanoparticle based CRSIPR/Cas gene editing system to treat Huntington’s disease

The CRISPR/Cas system represents a pioneering gene editing technology for the treatment of monogenic disorders including HD. One major obstacle is the efficient delivery of the components into the target cells in the brain. In this project, we aim at targeting the HD gene by use of nanoparticles in vitro in murine and porcine cell lines and human ipSCs, as well as in vivo in the HD mouse model. Since we will use the data from this project in subsequent trials in the pig model of HD, the project contributes to the development of safe gene therapy approaches for HD.

Author: Knut Stieger

Approved: January 2018

Developing a new class of antisense oligonucleotides (ASOs) with tricyclo-DNA technology to specifically suppress mHTT expression as therapeutic approach

Currently, the most promising strategy for an effective treatment for Huntington disease is to specifically target the cause of the disease: the mutant gene. Research in HD animal models has demonstrated that this can be achieved with gene silencing methods such ASO. One of the major challenges is getting the silencing molecules into the brain. Here we will test a new class of ASOs, tricyclo-DNA-ASOs, which are reported to have superior properties such as an unprecedented uptake in many tissues. We will evaluate three novel tc-DNA-ASOs in a rat model for HD and compare their efficiencies in lowering mutant HTT.

Author: Hoa Nguyen

Approved: September 2017

Sphingosine-1-Phosphate metabolism/axis: toward new therapeutic perspectives for Huntington disease

Huntington disease (HD) is the most common dominantly inherited neurodegenerative disorder with a complex pathogenetic profile and no cure available, yet.
Over the past few years, metabolic changes of sphingolipids, major components of brain cell membranes, have been frequently associated with HD. Evidence suggests that aberrant sphingolipid metabolism may play a prominent role in the pathogenesis of the disease.
The main objective of this research proposal is to collect evidence that modulation of sphingolipid metabolism may be beneficial in HD and eventually represent a concrete drug target for the development of novel and effective therapeutic interventions for the disease.

Author: Alba Di Pardo

Approved: April 2017

Sterols /oxysterols lipidome of neurons and astrocytes after restoration of CYP46A1, the cholesterol degradation enzyme, in the striatum of R6/2mice

No efficacy to slow the evolution was demonstrated in clinical trials in HD. Studies from human and mice indicate that altered sterol synthesis is implicated in neurodegenerative processes and could offer new therapeutic strategies. We recently showed that restoration of cholesterol 24-hydroxylase (CYP46A1) is neuroprotective in R6/2 mice. In the brain, cholesterol synthesis relies mostly on astrocytes, whereas neurons eliminate cholesterol oxidized into 24S-hydroxycholesterol (24SOHC) by CYP46A1. We propose to investigate
how neuronal restoration of CYP46A1 in HD regulates the cholesterol and lipid metabolism in these two cell populations using FACS followed by mass spectrometry analysis.

Author: Sandrine Betuing

Approved: January 2017

Defining the assembly, pathogenicity and modes of regulation of small fibrillar aggregation intermediates in Huntington’s disease pathology by optical nanoscopy

A pathological hallmark of Huntington’s disease (HD) is the accumulation of misfolded, polyglutamine-expanded Huntingtin (Htt) proteins into large aggregates. Yet, rather than aggregates themselves, intermediate Htt species formed ‘en route’ or ‘in parallel’ to aggregate formation are proposed to provoke neurotoxicity. In this project, the presence, pathogenic nature, and cellular fate of intermediate Htt species at different stages of HD pathology will be studied in detail using super-resolution nanoscopy. Additionally, their potential modulation by quality control activities of molecular chaperones and protein clearance machineries will be investigated. The obtained knowledge may advance targeted therapeutic design to ultimately delay HD onset and progression.

Authors: Willianne I.M. Vonk, Steffen J. Sahl

Approved: May 2016

Ghrelin, potential treatment of Huntington’s disease pathology

In addition to classical neurological symptoms, Huntington’s disease (HD) is complicated by peripheral pathology, including weight loss, altered metabolism and muscle atrophy. In this project we will evaluate a treatment strategy using ghrelin administration in a HD mouse model. Ghrelin, is a peptide hormone that has multi-tissue effects. Ghrelin has for example been shown to improve muscle wasting and prevent weight loss. In addition, ghrelin analogues (ie ghrelin similar compounds), have been shown to have beneficial effects on cognition. We believe that by targeting multiple tissues, we will both get increased understanding of the complex HD pathology as well as possibly find new treatment strategies.

Author: Maria Björkqvist

Approved: September 2015

Functional Studies on Glutamate Signaling, in a Drosophila model for HD, using analogs of Glutamate or Glutamine to Ameliorate the Pathology of the Disease

Glutamate that is responsible for neuronal communication is also the culprit for their death. Neuronal death in Huntington’s disease results in involuntary movement, dementia, until death. We are using the fruit fly or Drosophila melanogaster as a model of Huntington’s disease. We are trying to identify small molecules with similar structure as the glutamate that allow the neurons to communicate but avoid their death. The new drugs will be administrated in the diet and their effect analyzed on animal climbing. Because of the short generation time of flies we hope to quickly address the efficiency of these new molecules on neuronal death and to extend our studies to other neuronal degeneration diseases.

Author: Paola Bellosta

Approved: May 2015

Repurposing an enzyme inhibitor for dual therapeutic benefits in Huntington’s disease

Huntington’s disease (HD) stems from mutation in the HD gene. These genetic abnormalities cause the disease, including motor defects and cognitive and memory decline. Surprisingly, one enzyme in the HD brain seems to be involved both at the DNA level and in the disease progression. This double activity offers the chance to inhibit the enzyme for dual therapeutic benefits. This project will repurpose an existing inhibitor of the enzyme and evaluate its effects in preclinical models for protection of the HD gene and in rescuing long-term memory defects and cognitive decline.

Author: Robert Lahue

Approved: July 2014

Analysis and recovery of neuronal microcircuit activity in Huntington’s disease using two-photon microscopy and optogenetics

Intracellular Ca2+ homeostasis is altered in HD and is involved in the degeneration of striatal neurons. Prior to degeneration, however, the functionality of the neuronal network could already be impaired. We will study such network alterations in a HD mouse model as this could give insights into disease mechanisms and may provide a therapeutic target for potential corrective measures aimed at restoring normal network functionality. We will first analyze spontaneous cortical activity and then we will selectively stimulate/inhibit regions of interest from local neuronal populations to single cells or even subcellular structures to correct the altered network activity.

Authors: Axel Methner, Albrecht Stroh

Approved: January 2014

A comparative MRI study to determine the affect of extensive cognitive training on disease progression in HD mice

There is evidence from HD mouse studies that environmental enrichment can slow disease progression. In the present study we were interested to see whether long term cognitive training, so called “brain training” could slow the onset of, or reduce the severity of the disease in the YAC128 HD mouse line. Mice will be tested on a number of tests of motor and cognitive function and will then be scanned using magnetic resonance imaging (MRI) to determine whether “brain training” improves performance and whether the physiological changes underlying any performance benefit, can be identified with the MRI. This study could provide evidence as to the important brain structures responsible for the beneficial effects of environmental enrichment.

Author: Simon Brooks

Approved: May 2012

A translational study on the beneficial effects of exercise on Huntington’s Disease symptomatology: The development of a mouse correlate of an ongoing patient trial.

There is a considerable body of evidence from studies on Parkinson’s and Alzheimer’s disease, that exercise can reduce symptom severity in patients. As a consequence, a study was designed to determine whether this was true for Huntington’s disease. Based on this human study, we have designed a comparable study in mouse models of the disease to see whether a model system of exercise intervention could be developed. A model system for mouse models of the disease would permit us to optimise human exercise programmes and maximise the potential of this intervention strategy.

Author: Simon Brooks

Approved: November 2010

Generating unified HD progression measures in Registry participants

Although Huntington Disease is caused by a single gene, other genes can influence the disease’s speed, severity, and perhaps the mixture of features. Most studies to identify these genes have relied on variation in the age of initial clinical illness.  In contrast, my collaborators and I previously used the Track-HD data and a subset of Enroll to discover an important secondary gene by testing relationships with a combination of HD measures that change with time. Our sample size was relatively small. We will now use a larger portion of Registry data to refine these measures and search for additional modifier genes.

Author: Douglas Langbehn

Approved: December 2018

Anti-inflammatory drugs, and synergistic interactions with anti-diabetic drugs, and the progression of Huntington’s disease

Inflammation is associated with many neurodegenerative disorders, including Huntington’s disease. In this project, we aim, through a longitudinal observational study of the Registry and Enroll-HD databases, to explore if the intake of nonsteroidal anti-inflammatory substances would modify the progression of the disease in HD patients. Many HD patients, aside of suffering this neurodegenerative condition have other chronical diseases such as arthrosis, cardiac disease or diabetes. For some of these conditions they are prescribed drugs chronically, and we do believe that these drugs may affect the progression of HD. This information may have interest for future clinical trials.

Author: Rafael Vazquez Manrique 

Approved: April 2017

Does the precise CAG repeat sequence of intermediate and reduced penetrance alleles of HTT influence likelihood of expansion into the pathogenic range?

Although many HD patients have a family history of the disease, there is a low rate  of de ‘novo’ mutation, which are thought to arise from intergenerational expansion of the CAG repeat in HTT from the intermediate allele range (CAG 27-35 repeats) into the disease allele range (CAG ≥36 repeats). A recent study has shown that approximately 6% of the general population carries an intermediate allele and so it would appear that only a small proportion of all intermediate alleles expand on transmission into the disease range. We will study individuals with ‘no family history’ identifed through REGISTRY and families with intermediate/reduced penetrance alleles using SNP haplotype analysis and next generation sequencing technologies to study the sequence and architecture of the CAG gene to determine their influence on CAG repeat stability. Understanding these mechanisms better will improve the accuracy of genetic counselling in patients with intermediate/reduced penetrance alleles, as well as advancing our knowledge of HD pathogenesis.

Authors: Darren Monckton, Nayana Lahiri

Approved: January 2017

Perinatal asphyxia as a modulator of Huntington’s disease onset and progression

There is a large variation in the age-of-onset of Huntington’s disease (HD), even among persons with the same CAG-repeat length. There are other genetic and environmental factors which play a role in the disease. Oxygen-shortage during birth, called perinatal asphyxia, affects 8.5 babies per 1000 live births world-wide. These babies often have learning and communication difficulties like autism and attention-deficit-hyperactivity disorder and movement problems like cerebral palsy. Our project will investigate whether birth complications, like perinatal asphyxia, decreases the age-of-onset of HD or affects the type of symptoms at disease-onset, thus whether birth complications are an environmental modifier of HD.

Author: Melinda Barkhuizen

Approved: October 2016

Analysis of expression levels of Htt-interacting proteins in human lymphoblasts from HD patients

The project will address the question, whether amounts of certain proteins binding to Htt in human cells are influenced by the presence of a polyQ expansion in Htt. Amounts of known Htt-interacting proteins will be determined in lymphoblasts from HD patients and from normal controls, as will be their turnover and the half-life of the corresponding mRNAs. We hypothesize that levels of some of the Htt-interacting proteins might be influenced by the presence or absence of the HD mutation.

Author: Stefan Kochanek

Approved: September 2016

Identification of coding variants in DNA repair genes affecting age at onset of Huntington’s Disease

The gene mutation causing HD influences the age at which disease symptoms start, and the speed at which they progress. Recent genetic studies have uncovered a possible role for DNA repair pathways in modifying disease onset. This project will stratify the Registry database by actual age at disease onset against predicted age at onset, and then look specifically (by exome sequencing) for DNA changes that alter the protein sequence in DNA repair enzymes. Identification of these changes will help us understand the factors that affect when HD starts.

Author: Tom Massey

Approved: May 2016

Analysis of select Lymphocytic cell lines with rare or alternate alleles that are associated with GWA signal for age at motor onset modification

GWA study of 3500 HD individuals revealed three significant chromosome loci that are modifiers of mAOO. By computing the halotype and SNP structure of individuals bearing these SNPs at each of the three loci, we identified a group of individuals who represent a strategically overlapping genotype structure around each of these loci. We will use the LCL’s from these individuals to capture and sequence the length of the chromosome loci as bounded by linkage disequilibrium, to compare and identify sequence level variants that likely confer the modifier effect in these individuals. This is one of critical steps to drill down from associated chromosome loci to causative modifier gene/genes- and ultimately advise on therapeutic strategies.

Author: Seung Kwak

Approved: March 2016

Do hormonal birth control pills and/or does pregnancy influence the onset and/or severity in HD?

To be able to answer frequently asked questions about the influence of hormonal anticonceptives and/or pregnancy on the course of HD, we want to check data collected within „Registry» and enroll-HD to look for differences among women with equal CAG repeats, but different patterns of either anticonception (hormonal-mechanical etc.) and women who were pregnant and gave birth.
The aim of our data-mining project is to determine if there are any significant differences between these groups, which will mean that hormonal changes might influence the course of HD.

Author: Janina Kieni

Approved: December 2015

Comparative analysis of mitochondrial genomes in HD

Mitochondria are critical for cellular energy production and many other vital biological functions. Mitochondrion is the only organelle with its own genome in animals. Perturbations in mitochondrial function have been routinely observed in HD patients. We propose to investigate whether mtDNA variations and mutations can contribute to onset and progression of HD. By sequencing at high depth the mitochondrial genomes from HD patients and healthy controls we will be able to discern mutations, variation, and the proportion of pathogenic mutations in HD patients. We will be able to determine whether mtDNA variations/mutations play a role in HD progression.

Author: Zhenglong Gu

Approved: July 2015

Evaluating possible effects of HD on epigenetic acceleration of DNA aging in peripheral blood cells

Our coapplicant S. Horvath (UCLA) recently developed a highly accurate biological clock based on DNA methylation levels. The compound signature using multiple methyl-DNA marks in post mortem HD brains have provided insight on how cells bearing HD mutation manifest DNA marks reminiscent of premature DNA aging (See project “Correlation of DNA sequence and epigenetic status…”). Here we sought to use a set of whole blood DNA, employing to ascertain epigenetic signature in blood of HD for evidence of methy-DNA age accelaration

Author: Seung Kwak

Approved: November 2014

Correlation of DNA sequence and epigenetic status between blood and lymphocytic cell line

Horvath et al recently developed a highly accurate biological clock based on DNA methylation levels. This epigenetic clock turns out to be substantially more accurate than existing biological clocks including telomere length and p16INK4A levels. They applied epigenetic clock to a number of human brain samples from HD subjects and suitable controls (unpublished observations). Strikingly, they see a highly significant age acceleration (respective to control brains of similar age) associated with HD in several brain regions including cerebellum, cingulate gyrus, and possibly motor cortex and parietal cortex. Here we plan to determine 1) whether similar epigenetic accelerated aging effects can also be observed in HD blood DNA, and 2) if aspects of epigenetic aging acceleration can be modeled in patient derived cell lines for in vitro experimentation

Author: Seung Kwak

Approved: November 2014

SNP typing of 96 highest value loci of Registry samples identified from the GWA Study effort

The variance in the neurological age of onset in HD cannot be explained by CAG repeat size alone. We have previously performed a GWA study and successfully identified significant SNPs that modify neurological age of on-set. Many other sites were nominally associated but not significant. We intend to survey 5000 additional samples at 96 top loci as means to cross validate, and new modifier genes arising from this effort should give rise to high value drug targets.

Author: Seung Kwak

Approved: July 2014

Identification of epigenetic signatures in HD striatum

Transcriptional dysregulation is an early process that is central to HD pathogenesis. Compounds aimed to improve gene expression through chromatin structure modulation are considered as promising. HDAC inhibitors are such compounds. However they lack selectivity and are relatively toxic. The goal of the project is to better characterize HD epigenome using genome-wide and high-resolution technique (e.g. ChIP-seq) and identify epigenetic signatures that may be useful to define new targets for epigenetic therapies. Our data obtained in HD R6/1 mouse striatum reveal a specific epigenetic signature associating with disease. We will determine whether this signature is conserved in HD brain tissues.

Author: Karine Merienne

Approved: July 2014

Analysis of genes participating in the dopamine and serotonin neurotransmitter system as potential modifier genes for Huntington disease pathogenesis

The pathogenesis of Huntington disease is provoked by the CAG repeat expansion in the HTT gene, but seems to be determined by a wide spectrum of pathways. To date, different studies showed an involvement of proteins in the dopamine and serotonin system in the pathological process of HD. Alterations in the dopamine and serotonin metabolism have been detected in HD animal models as well as in HD patients. In the present study, we intend to test various components of the dopamine and serotonin system (MAO-A, SLC6A3, SLC6A4, DRD2, DRD3, DRD4, ANKK1, HTR2A) as putative HD genetic modifiers. The identification of phenotype-associated polymorphisms may improve prognosis prediction and evaluation of medical intervention during patient assessment.

Author: Silke Metzger

Approved: July 2014

Can genetic imprinting be a factor in the pathogenesis of Huntington’s disease?

This study aims at verifying if genetic imprinting may modify the age at onset (AO) in Huntington’s disease (HD). The proportion of variation in the AO explained by the sex of parent affected with HD in a large population of patients, with the dominant impact of (CAG)n repeats included in the analyses, will be determined. Simple linear regression analyses and nested multiple models will be performed. The AO will be treated as the outcome measure while the number of CAG repeats, parental sex and parental age at conception will be included in the analyses as the predictor variables.

Author: Anna Stanisławska-Sachadyn

Approved: July 2014

Investigating the significance of novel huntingtin splice variants in Huntington’s disease patients

Screening the HTT gene in HD and control brain revealed many novel splice variants. A pool of HTT RNA species therefore exists with the potential to encode novel HTT protein isoforms. This study aims to determine whether these different protein isoforms exist and whether they associate with HD pathogenesis. The normal and pathogenic roles of HTT are not fully understood. Characterisation of any novel HTT protein isoform could contribute to a better understanding of the function of HTT in the cell. Furthermore, a comprehensive knowledge of alternative HTT RNA species could have implications for the design of RNA silencing therapies in HD.

Author: Alis Hughes

Approved: May 2014

CAG repeat length polymorphisms as modifiers of clinical phenotype: Huntington’s disease and the general population

Recently it was shown that subjects with intermediate HTT alleles experience significantly more depressive symptoms than controls. As in the general population the frequency of intermediate alleles can be as high as 6%, these findings could have important implications for both Huntington’s disease patients and the community at large. Therefore, we aim to systematically evaluate 1) the role of HTT CAG repeat polymorphisms in the normal range as modifiers of mental health, cognition, metabolism and aging in the general population, and 2) the effects of CAG repeat polymorphisms in other polyglutamine disease-associated genes on the clinical features of Huntington’s disease patients.

Author: Ahmad Aziz

Approved: January 2014

The role of SMAD-dependent TGFβ signalling in transcriptional dysregulation in early stage models of HD

SMAD proteins are major regulators of gene expression that act within the transforming growth factor-beta (TGFβ) signalling pathway. Preliminary data has revealed potential differences in this pathway in a cell model of HD. This project aims to characterise the role of SMAD proteins in mouse and human cell models of HD by comparing their expression, localisation and activity, as well as by manipulating the TGFβ pathway in order to determine whether it may contribute to the altered gene expression that is observed in HD.

Author: Kathryn Bowles

Approved: January 2014

Analysis of the Registry Clinical Characteristics Questionnaire data

The Clinical Characteristics Questionnaire (CCQ) records age of onset in a range of HD symptoms. To inform our use of CCQ information in our ongoing genome-wide association study we wish to obtain data from all subjects in the database who have a filled out CCQ. The two main aims of asking for data on all subjects that are available are to:
• Model the relationship of each symptom to CAG repeat length;
• Explore whether symptoms recorded are an inevitable part of the disease progression in all or most HD subjects, or whether some symptoms can be regarded as dichotomous.

Author: Lesley Jones

Approved: May 2013

Investigation of polymorphisms affecting the dopaminergic system on age of onset and disease progression in human Huntington’s disease

The abnormal gene in HD contains a large repeat that codes for an abnormal form of the huntingtin protein and the size of this repeat governs to some extent when people get the disease. However, there are other influences on this and we are investigating whether changes in a specific transmitter system in the brain could be involved. In order to do this we are testing small variations in the genes coding for dopamine receptors and analysing whether it affects when people get HD. If this does prove to be the case then it may open up new treatment strategies.

Author: Roger Barker

Approved: May 2013

An investigation into gender influence on anxiety and depression in Huntington’s Disease (HD) across disease-stage

The proposed study aims to examine gender differences in depression and anxiety in HD. A consistent finding among the general population is that women are more likely to experience anxiety and depression than men. While there is some evidence of a higher frequency of depression in females with HD when compared to men with HD, the results are inconsistent. Moreover, anxiety remains a relatively neglected area in HD research and little is known about any impact of gender on anxiety symptoms. This study proposes to use REGISTRY data from a UK sample, with the Hospital Anxiety and Depression scale (HADs) as a measure of symp-tomology. Due to the variable course of anxiety and depression in HD, an analysis of gender by disease-stage will be conducted.

Author: Maria Dale

Approved: April 2013

The use of propensity scores to draw inferences about how lifestyle factors might be associated with HD progression and clinical severity

The overarching aim of this study is to develop statistical methods for the analysis of large scale longitudinal data sets for the ENROLL database. The study will use currently available data from the European Huntington Disease Network Registry («Registry») database to evaluate whether use of causal modeling techniques (namely propensity score weights) might prove helpful for increasing understanding of the potential environmental modifiers of HD. Specific moderating variables of interest include: education, socioeconomic status, smoking, alcohol, drug use, statin use, aspirin use, nutritional supplements, and antidepressant drug use.

Author: Beth Ann Griffin

Approved: March 2013

Replication study of non-genetic factors that can influence the age at onset (AO)

It is estimated that 60% of the age at onset of Huntington’s disease variability is due to environmental factors; however, few studies have analysed the influence of that factors. Previously, we have detected some association between two different environmental factors and age at onset, but in a small HD patient’s sample. Therefore, the aim of this work is to carry out a replication study in a larger sample in order to confirm or reject the previously obtained results. The relationship between premorbid factors (such as Diabetes mellitus, arterial hypertension, allergies, etc.), life style habits (such as tobacco smoking, alcohol abuse, drug consume…) and age at onset will be studied.

Author: Leire Valcarcel Ocete

Approved: January 2013

Does the presence of the HD mutation affect the development of the human striatum?

The aim of this project is to set-up a network across six University Hospital sites in the UK for the collection of fetal tissue carrying the HD mutation. Consent will be obtained by a specially trained research nurse and tissue will be collected following both surgical and medical termination of pregnancy. Tissue will be returned to the School of Biosciences at Cardiff University where it will be used to collect preliminary data on the HD mutation, including gene expression profiles, CNS anatomy, and cellular characteristics.

Author: Anne Rosser

Approved: September 2012

Heritability of age at onset and progression in Huntington’s disease: heritability of symptom onset and progression and identification of the most informative subjects for revealing genetic modifiers of Huntington’s disease

In HD both onset and progression are variable: the variability in HD onset can be attributed to HTT CAG length but also other genetic differences between subjects. The influence of CAG length on disease progression unclear and its heritability poorly understood. To inform the search for modifiers of disease onset and progression we wish to establish the correlation of onset ages of multiple symptoms from the Clinical Characteristics Questionnaire, establish the heritability of progression and onset amongst relat-ed subjects and examine Registry for discordant subject relatives in which to search for genetic modifiers of onset and progression of HD.

Author: Lesley Jones

Approved: May 2012

The role of phosphorylation pathways in the oligomerization and toxicity of mutant huntingtin

Aggregation of the huntingtin protein is a central event in Huntington’s disease. While mutations in huntingtin affect its aggregation, it is becoming evident that post-translational modifications, such as phosphorylation, may also influence the aggregation propensity and toxicity of the protein. In order to understand how phosphorylation modulates huntingtin aggregation and toxicity we will search for genetic and pharmacological modifiers of the initial steps of aggregation and toxicity using an assay we recently developed, known as bimolecular fluorescence complementation. Ultimately, our findings may enable the development of novel strategies for therapeutic intervention by modulating huntingtin phosphorylation.

Author: Tiago Fleming Outeiro

Approved: December 2011

Analysis of potential modifier genes involved in intracellular trafficking and mitochondrial function

The expanded CAG repeat in the HTT gene causes Huntington disease (HD), but other genetic factors additionally influence the course of the disease. We identified HAP1 as one of these genes modifying the age-at-onset. So, we aim at verifying this effect of HAP1 in an additionally patient cohort and examining the association between HAP1 and the body mass index of these patients. Additionally, we intend to search for further modifier genes participating in intracellular transport and mitochondrial function. As both aspects seem to be closely related to the pathogenesis of HD, modifying effects of these genes may influence the disease.

Author: Silke Metzger

Approved: January 2011

Are there specific lifestyle factors that could be associated with the HD clinical characteristics and progression thereof: a retrospective data mining study?

This data mining study aims to use currently available data from Registry to evaluate whether there are any specific environmental factors that could be associated with progression of symptoms in the first instance and ultimately with onset of symptoms. This will not prove causal links but may identify a starting point to aid further understanding of environmental modifiers. We will investigate any associations between a) education and occupation, b) concomitant disorders c) smoking, d) alcohol e) drug use and HD clinical characteristics using multiple regression analysis. Classification and regression tree (CART) analysis will also be utilised.

Author: Monica Busse

Approved: December 2010

Identification of genetic modifiers of age of onset in HD. Candidate gene study of CR1, CLU, PICAM, PRNP and APOE

We aim to identify potential genetic modifiers of HD age at onset. There are many parallels between different neurodegenerative diseases; the processes which occur in Alzheimers disease and HD may, for example, involve similar pathways. For that reason we will search for polymorphisms in several genes/proteins of HD patients that are known to play a role in the pathogenesis of Alzheimers Disease. We will investigate 1 SNP (punctual variabilities in the DNA) in each of the following genes: CLU, CR1, PICALM and PRNP and 2 SNPs in APOE.

Author: Sarah Tabrizi

Approved: December 2009

Disease Progression Modeling in HD

This is a collaborative effort between CHDI, FDA and the HD research community to develop a disease progression model, using REGISTRY data and data from other observational studies (COHORT, PREDICT, TRACK and ENROLL) and selected clinical trials. The model will be used in the planning of future clinical trials. We model the age at first appearance and rate of progression of various signs and symptoms of HD, search for genetic, environmental, and life-style related variables that explain variability in disease progression and attempt to characterize the diverse patterns of disease progression that appear in the study population.

Author: John Warner

Approved: November 2009

An assessment of CAG repeat length and age at onset on rate of disease progression in Huntington´s disease

While CAG repeat length influences onset age, studies have been insufficiently powered to evaluate the effect on rate of disease progression. We propose to study individuals followed longitudinally for at least three years, and with at least three neurological examinations, to evaluate whether the CAG repeat length and age at onset are independent predictors of rate of progression or if one or the other singly accounts for association to rate of disease progression. These studies may be relevant to clinical trials, to control for the effects of factors that influence rate of disease progression.

Author: Richard Myers

Approved: April 2009

Tau haplotype and its relationship to age of onset and disease progression in Huntington’s disease (HD)

Factors influencing the age of onset of HD are largely unknown outside of CAG repeat length. What affects speed of disease progression is also unclear. This project will investigate whether tau haplotype has an influence on either of these aspects of HD, as we have shown that the H1 tau haplotype is associated with the early onset of dementia in Parkinsons disease. We will compare tau haplotype against CAG repeat length, age of disease onset and evidence of disease progression over a two year period using Total Functional Capacity measures.

Author: Roger Barker

Approved: April 2009

Copy number variation of potential genetic modifiers of Huntington’s Disease

Genetic modifiers of Huntington’s disease (HD) influence when and how HD manifests and how HD progresses. We have identified several potential modifier genes that show copy number variation (CNV). Various gene mutations can lead to CNV from the standard gene dose of two copies (one from each parent). CNV of candidate genes influences resistance or susceptibility e.g. for psoriasis and HIV-1 infection. This project will investigate the association of CNV of potential genetic modifiers of HD with age-of-onset and progression. If CNV in a given candidate modifier gene were associated with e.g. a delay of age-of-onset or progression, this may help elucidate further the pathogenesis of HD, as well as offer new therapeutic targets for HD.

Author: Flaviano Giorgini

Approved: February 2009

Unbiased prioritarization of neuroprotective targets for HD

A project developed by the Biological Modifiers Working Group at EHDN
The aim of this project is to develop data integration and network analysis to prioritize neuroprotective targets in HD. Huntington’s disease is extensively studied thanks to models that were developed in several species and that recapitulate complementary components of HD pathogenesis. Genome-wide analyses in these models have generated a large amount of data with high potential for target selection. The comprehensive and unbiased integration of ‘omics data’ on HD will allow better decisions in candidate target selection to be reached. Selecting for gene networks, modules and strings that are consistently highlighted by different model systems as ‘targets’ and/or ‘modifiers’ of mutant huntingtin activity may provide a strong basis to develop neuroprotective strategies that may be efficient against several stages and/or key features of HD. This concerted action involves the laboratories of Juan Botas, Bob Hughes, Lesley Jones, Ruth Luthi-Carter, Christian Neri and Shen Zhang.

Author: Christian Neri

Approved: January 2009

Search for candidate genes implicated in Huntington’s disease (HD) age of onset (AOO)

The aim of this work is the identification of Huntington´s disease AOO genetic modifiers, different from the CAG repeat length in the HD gene. For this purpose we will carry out an association analysis with 115 SNPs from 20 candidate genes in 250 samples collected by the REGISTRY project. The chosen candidate genes are located in several chromosomes and have been selected for being genes which encode proteins that interact directly with huntingtin or because they take part in the pathogenesis of the disease. The selected SNPs are located in coding, intron and 5´ and 3´ regions of the selected genes.

Author: ANA AGUIRRE ESCOBAL

Approved: December 2008

Genome-Wide Genotyping of EHDN Samples

The variance of the age at onset (AAO) of first signs of HD cannot be explained by CAG repeat size alone. A substantial proportion of the residual variability is highly heritable indicating that other genes also influence AAO. In order to identify such genetic variants we will undertake genome-wide genotyping in REGISTRY participants where the appropriate clinical information is available. This will employ powerful analysis tools with the aim of genotyping millions of gene loci in thousands of REGISTRY participants. The identification of genetic variants that modify AAO of HD may open new avenues for developing novel therapeutics.

Author: Seung Kwak

Approved: October 2008

Influence of gender on progression of HD

Several factors other than the CAG repeat length very likely influence when Huntington’s disease manifests and how it progresses. One such factor may be gender. We will assess in a cross-sectional CAG repeat matched sample whether there is any difference between men and women in the rater estimates of age at onset. In the second part of the study we will look at longitudinal data (at least 3 REGISTRY visits) to test for any gender related differences in the progression of HD signs (motor, behaviour, TFC, cognition). Any difference between the sexes may point to gen-der specific modifying factors.

Author: Daniel Zielonka

Approved: October 2008

PGC-1a as a potential modifier gene of age of onset of HD

The Huntington’s disease (HD) gene determines to some extent when HD signs appear. However, other genes, so called modifier genes, also influence the age of onset. Recent studies implicate PGC-1a, an important regulator of the cell’s main energy generator, the mitochondrion, as a potential modifier gene. We have already found an association of PGC-1a gene variants with age of onset of motor symptoms in an Italian HD population. These findings we intend to replicate in a larger sample of data collected in REGISTRY. If confirmed, it may be worthwhile to explore the potential of PGC-1a as a therapeutic target.

Author: Patrick Weydt

Approved: August 2008

Search for genetic modifiers in HD: exploring the Foxo network

In Huntington’s disease (HD) the CAG repeat length explains much, but not all, of the variance in the age at onset (AO). Other as yet unknown genes also contribute. In mouse and worm models we identified potential modifiers of mutant huntingtin cytotoxicity in the Foxo network. FOXO transcription factors are important regulators of cell survival in response to a variety of stress stimuli such as oxidative stress, DNA damage, and nutrient deprivation. To look at the relevance of our findings in HD model systems for HD patients using REGISTRY data we will investigate the relationship of gene alterations within several FOXO members with the age at onset of HD signs, and progression of HD.

Author: Christian Neri

Approved: November 2007

Hunt for Huntington modifiers with systems biology approaches

Genes other than the Huntington’s disease (HD) gene influence when HD signs appear. These genes are called modifier genes. We previously identified potential modifier genes, and mutations within these genes. In this project, we intend to associate the mutations with the variation in age at onset. To this end we will study genotypes of 1000 HD patients and correlate genetic findings with clinical characteristics. Once the potential modifier genes and its mutations have been determined, they could serve as important targets for therapy development to delay the onset of HD.

Author: Erich Wanker

Approved: November 2007

Sex-specific differences in AO

The CAG repeat length accounts for about half of the variance in the age of onset (AO) in Huntington’s disease (HD). Genes other than the HD gene (Modifier genes) may account for an additional 40% of the variation. N-Methyl-d-aspartate (NMDA) receptor-mediated excitotoxicity has been proposed to play a role in the pathogenesis of HD. We previously found substantial differences of the C2664T SNP in GRIN2B (glutamate receptor; ionotropic NMDA) between men and women, in particular in premenopausal patients. If confirmed in a larger sample of data collected in REGISTRY hormonal factors might prove a possible therapeutic target.

Author: Carsten Saft

Approved: November 2007

Genome Wide Association Scan to Identify Modifiers of HD Onset

The length of the HD CAG trinucleotide repeat plays the major role in determining age at neurologic onset but does not explain all of the variation observed. In an extensive collaborative effort, we are searching the entire human genome for genetic variants that modify age at neurologic onset in HD to identify genes capable of altering HD pathogenesis. A first phase of 1200 HD samples has been genotyped using a high density microarray (Affymetrix GeneChip v6.0) and a second phase of genotyping of 1600-2,000 independent HD samples, is gearing up, to confirm or refute results from phase 1 and to add additional power to detect genetic modifiers that could provide therapeutic targets.

Author: James Gusella

Approved: November 2007

Impact of education on age at onset and progression of HD

Genetic and environmental factors other than the Huntington’s disease (HD) gene influence when HD signs appear and how HD progresses. Education protects from Alzheimer´s disease, and development in an enriched environment slows the disease in mouse models of HD. We aim to investigate the impact of education on 1) the age at onset and 2) the progression of HD. For the first aim we use a cross-sectional sample and for the second longitudinal data from patients with 3 or more REGISTRY visits. If education modified HD onset or progression paying attention to education could improve the prognosis.

Author: Justo García de Yébenes

Approved: October 2007

Understanding how conformation-specific antibodies target misfolded huntingtin states

The huntingtin protein that is mutated in Huntington disease (HD) forms multiple types of misfolded protein deposits in symptomatic and pre-symptomatic patients, in model animals, and in vitro. In clinical trials focused on lowering the amount of mutant protein, the mutant protein deposits represent a crucial biomarker given its association with disease onset and progression. In our project we aim to develop a molecular understanding of how particular HTT-specific antibodies bind and recognize distinct types of protein deposits, to support their use as ongoing and future use as diagnostic tools in preclinical research and beyond.

Author: Patrick van der Wel

Approved: May 2021

Untargeted proteomics analysis and proteomic profiling in Cypriot Huntington’s disease patients

Protein-protein interactions can be studied in order to understand how mutant huntingtin (mHTT) and/or wild-type HTT (wtHTT) proteins interact with other proteins and how abnormal protein expression changes in different HD disease stages. The study will utilize discovery proteomics using a Liquid chromatography-mass spectrometry (LC-MS) based approach on serum samples obtained from asymptomatic, symptomatic and advanced HD patients versus gender/age matched controls. The proteomics data will be analysed using bioinformatics tools and databases, to describe and identify the biological pathways and underlying mechanisms involved in HD phenoconversion and progression.

Author: Christiana Christodoulou

Approved: March 2021

Huntington’s disease brain pathology signatures in exosomes: potential markers of disease progression

Exosomes, small vesicles secreted by most cell types, including brain cells, contain biological material specific to the state of the cells of origin. Thus, they have emerged as promising carriers of biomarkers in HD. However, investigation is needed to identify disease-specific signatures in brain exosomes. We will isolate exosomes from postmortem HD and control brain samples and measure changes in protein composition in order to identify HD-specific signatures that correlate with brain pathology. Given that exosomes can cross the blood-brain barrier and reach the bloodstream, they could be accessed and serve as a source of biomarkers for HD brain-related processes.

Author: Rocio Perez Gonzalez

Approved: January 2020

Pioneering the next generation of biofluid biomarkers for Huntington’s disease: the NEVADA-HD Study

We have made considerable progress in biofluid biomarkers for HD, but we still need better biomarkers to tell us what is happening inside the brain. Exosomes are tiny vesicles released by most cell types under normal and pathological conditions. They harbour proteins/RNA/lipids that reflect the functionality of the host cell. Exosomes can be isolated from biological fluids and their content can be measured as a fingerprint of the tissue of origin. This study aims to optimize the isolation of exosomes of neuronal origin, both from cerebrospinal fluid and blood of subjects with pre-manifest and manifest HD, comparing different techniques; and to evaluate them as a new source for biomarker discovery in HD.

Author: Edward Wild, Rosanna Tortelli

Approved: May 2019

The role of the ribosome in the pathogenesis of HD

Huntington´s disease (HD) is a proteinopathy, like most neurodegenerative diseases. In proteinopathy, the balance of protein synthesis, maintenance and degradation  (protein homeostasis) is severely disturbed.  In this project we would like to investigate if huntingtin (htt) is a transcription factor involved in ribosomal biogenesis by RNA polymerase I. We will analyse synthesis, processing, assembly and performance of the ribosomes of HD patients. Following a recent description by our group in an unrelated childhood progeria with neurodegeneration, we hypothesize that disturbances in protein synthesis at the ribosome might contribute to the loss of protein homeostasis in HD.

Author: Sebastian Iben

Approved: May 2019

CLEAR-HD: Cortical Layer Examination At high Resolution in Huntington’s Disease

With a number of therapies emerging that can directly target the Huntington’s disease (HD) gene mutation, there is now potential to slow or even cure the disease. Many of these treatments are either injected into the cerebrospinal fluid, where they achieve greatest uptake in the cortex, the outermost layer of the brain, or are delivered by injection into the basal ganglia, a deep brain structure. In the CLEAR-HD study we are using cutting edge brain imaging techniques to look at these structures at a level of detail that has never been possible before using a combination of ultra-high field 7T MRI and magnetocephalography.

Author: Peter McColgan

Approved: January 2019

Exploring potential cerebrospinal fluid biomarkers for reverse transsulfuration pathway impairment and redox imbalance in Huntington’s disease – relevance for cysteamine treatment?

Oxidative stress may play a role in neurodegeneration. The sulfur-containing amino acid cysteine is made from methionine via transsulfuration from cystathionine. Cysteine is important for the synthesis of the antioxidant glutathione. Due to their sulfhydryl group, cysteine and glutathione, so-called aminothiols, can neutralize pro-oxidants. In the HD brain, cysteine synthesis seems to be impaired. Cysteamine, an EMA-approved drug, can boost cysteine levels. A clinical trial indicated that cysteamine might be beneficial in HD.
In this project, we aim to explore whether aminothiols are changed in the HD cerebrospinal fluid indicating cysteine deficiency and/or oxidative stress. Demonstrating alterations in aminothiols in HD would substantiate the rationale for cysteamine treatment.

Author: Jan Lewerenz

Approved: July 2018

Association Between Iron Dysregulation, Neuroinflammation and Clinical Measures in Huntington’s Disease

In Huntington’s disease (HD), as in other neurodegenerative diseases such as Alzheimer’s disease (AD) and Parkinson’s disease (PD), damage to neurons appears to go hand in hand with inflammation in the affected brain region.  Inflammation in the brain (neuroinflammation) activates specific immune cells called microglia. Another aspect common to neurodegenerative disease is accumulation of iron in brain areas affected by the disease. There is evidence that in HD, as well as in PD and AD, much of this excess iron is found in activated microglia. We wish to establish the role of iron accumulation in brain regions involved in HD and its link with neurodegeneration and neuroinflammation, as well as to examine the potential of using iron accumulation as a sensitive imaging marker for disease progression. We plan to achieve these goals by quantitatively measuring the distribution of iron in the brain using MRI at ultrahigh field (7 Tesla). This sensitive measure for iron in the brain will then be correlated with cerebrospinal fluid (CSF) markers for neuroinflammation and neurodegeneration on the one hand, and with clinical measures for disease progression and severity on the other.

Author: Itamar Ronen

Approved: May 2018

Leucocyte telomere length as a biomarker in Huntington’s disease

Peripheral blood biomarkers, predicting age of onset and disease progression, are crucial points both in genetic counselling and in trials for new drug delaying disease onset and progression. Telomeres are repetitive sequences at the ends of chromosomes with a role in genomic stability maintenance. Reduced leucocyte telomere length (LTL) is associated with neuroinflammation and neurodegeneration in aging and Alzheimer’s Disease. Our project aims at verifying whether LTL could be used as a biomarker for HD progression. The study of LTL shortening in a large sample of HD subjects, might provide useful data to be correlated with disease onset and progression.

Author: Liana Veneziano

Approved: January 2018

Mutant huntingtin associated changes in exosome content composition

Tissues in the body communicate with each other by releasing parcels into the blood stream. These parcels, called exosomes, contain various biological materials including proteins and mRNA. Exosomes can cross the blood-brain-barrier and thus examining them might help us learn what is going on within the brain including in Huntington’s disease. This could be important in the context of clinical interventions where we will need a good measure of their efficacy, in particular within the brain. We propose that exosomes can be used to this end in particular as measures of the molecular effects of mtHTT.

Author: Andreas Neueder

Approved: January 2017

The association of nucleolar activity with mutant huntingtin protein species in HD

Transcriptional dysregulation is known in HD. Here we will test the hypothesis that changes in ribosomal DNA (rDNA) transcription in the nucleolus are early signs of transcriptional dysregulation by mutant huntingtin (mHTT). By a systematic analysis of nucleolar transcription in HD models and tissue biopsies at different stages, we aim at identifying a sensitive metabolic marker linked to mHTT. The results could help to test the efficacy of ongoing therapeutic strategies aiming at lowering mHTT levels in specific cells. Concomitantly, the tissue-specific impact of mHTT on rRNA transcriptional dysregulation might account for the still unexplained variability in HD onset.

Author: Rosanna Parlato

Approved: September 2015

The role of microRNA-34 in cancer defense- and HD pathogenic mechanisms

The frequency of cancer in HD patients is only half of what is expected from population studies, and this applies to all forms of cancer. This is also true for other polyQ disease patients, which indicates that CAG repeat expansions have protective effects against the initial steps in tumor formation. The microRNA, miR-34, is well-known as a tumor suppressor that protects against uncontrolled cell growth, and it may be involved, in some situations, in cell death. We investigate the role of miR-34 in cancer defense and neurodegeneration by studying HD patients, transgenic HD mice and a cell model.

Author: Lis Hasholt

Approved: January 2014

The Alterations in Transcranial Sonography of Huntington Disease Patients with Psychiatric Symptoms

Transcranial sonography (TCS) is a noninvasive method that provides an insight into the pathology of movement and affective disorders. TCS findings could play a role in differential diagnostics and serve as markers of disease progression. The aim of the project is to prospectively screen a population of HD patients in search of abnormal TCD findings (altered echogenicity of nucleus raphe, substantia nigra, caudate nucleus) and to correlate them with symptoms like depression and apathy. The main goal is to check, if TCS findings may serve as a biomarker and a predictor of depression in HD patients, also those treated with dopamine depleting agents.

Author: Katarzyna Jachińska

Approved: September 2013

Apathy, cognition and oculomotor impairment in HD

Individuals with Huntington’s disease (HD) often suffer from apathy, a condition involving reduced motivation and initiation. Apathy has negative consequences for both patient and family, and has been associated with cognitive (thinking) changes in HD. In healthy adults and individuals with other conditions, apathy has been associated with abnormal eye movements while processing information. HD patients and gene carriers are known to show abnormal eye movements, but little is currently known about how changes in eye movement relate to changes in cognition and behaviour. This project will explore relationships between data on eye movements, apathy and cognitive performance in HD.

Author: Judith Bek

Approved: January 2013

Mitochondrial dysfunction in Huntington’s disease

Mitochondria are the subcellular particles that are critical for the use of oxygen and glucose. A better understanding of their role in Huntington’s disease could be important for the discovery of new therapeutic approaches. Hence we will investigate mitochondria in blood cells and autopsied brains from patients, as well as in brains from mice that bear the gene mutation that causes HD in humans. Our plan is to measure activity, protein and message levels of the enzymes of the tricarboxylic acid (TCA) cycle, which is critical for several biosynthetic pathways. The results could reveal peripheral and central energetic alterations that may contribute to HD pathology.

Author: Gary Gibson

Approved: October 2012

Muscle pathology in HD as a source for biomarkers?

Peripheral manifestations of HD may provide an easily accessible and valuable source of HD biomarkers. Muscle wasting is a well-recognised phenomenon in patients with HD and worsens with disease progression. Interestingly, inflammatory processes can be linked to the development of muscle atrophy and immune activation in peripheral blood monocytes can be seen in HD. In this project, we will investigate the relationship between immune activation and muscle wasting in HD. We will study muscle pathology in relation to inflammatory cytokines in HD mouse models and in pa-tients with juvenile onset of HD.

Author: Maria Bjorkqvist

Approved: July 2010

The studies on the biochemical markers characterizing Huntington´s disease –determination of the profile of common amino acids in the serum of patients in different stages of Huntington´s disease

Decreased levels of branched amino acids (BCAA) correlate with the number of CAG repeats, UHDRS^® scores and weight loss in HD patients. This study will determine the profile of common amino acids in the serum of HD patients and normal controls. The results might clarify the role of certain amino acids further, lead to metabolic markers of early disease stages and could be crucial for the development of special nutrition supplements.

Author: Beata Gruber

Approved: November 2009

Molecular mechanisms of BCAA and energy metabolism study in peripheral blood mononuclear cells of Huntington’s disease patients

Energy production impairment and mitochondrial dysfunction play an important role in the pathogenesis of Huntington’s disease (HD), within and outside the outside central nervous system. Bioenergetics defects on the cellular level and low levels of branched chain amino acids (BCAA) in serum plasma of HD patients were previously described. Difficulties of the clinical onset description and HD progress detection are also related to a lack of specific and sensitive HD biomarkers. The objective of this study is to investigate bioenergetics defects in peripheral mononuclear blood cells of HD patients on a molecular level including BCAA and energy metabolism by evaluation of the gene expression level in order to establish molecular biomarkers.

Author: Jolanta Krzyszton-Rusjan

Approved: November 2009

Parameter optimisation for diffusion tensor imaging in Huntington’s Disease

Striatum and cortex are affected in HD. Disruption of fibres connecting these structures may play a role in symptom development. In preparation for a large Europewide diffusion weighted imaging study, this pilot study aims to identify suitable scanning parameters as well as post-processing methods for the analysis of cerebral white matter. In addition, we attempt to identify possible gains in sensitivity of the technique at higher MRI field strengths. To this end, HD gene mutation carriers and matched controls will be studied using different MRI hardware at the Universities of Ulm and Freiburg, Germany.

Author: Jan Kassubek

Approved: November 2008

A qualitative exploration of gaps in mental health support for people affected by Huntington’s disease in England and Wales

People who carry the HD gene expansion can experience many mental health difficulties, affecting quality of life. Many people affected by HD consider mental wellbeing a key issue. However, difficulties accessing mental healthcare are common, and evidence is lacking regarding intervention effectiveness. We aim to understand the mental wellbeing needs of people affected by HD in the UK, and the barriers to good mental healthcare. Accordingly, we will interview and analyse data from people carrying the HD gene, other HD family members, and healthcare workers supporting people affected by HD. We aim to generate evidence to improve mental health support.

Author: Sarah Gunn

Approved: April 2023

Huntington Partner in Balance: online self-management for partners/caregivers of persons with Huntington Disease (HD)

Overburdening the caregiver can lead to anxiety and depression and ultimately to inability to maintain their informal role in the treatment of HD. It is therefore of great importance to preventively increase the resilience of caregivers and in this way prevent overloading at a later stage of the care process. This project aims to develop and evaluate an online self-management program for partners, relatives, caregivers of HD patients. This intervention will be based on the blended care self-management program Partner in Balance (PiB) for partners of patients with dementia, which has proven to be effective (https://www.partnerinbalans.nl/home/en/).

Author: Annelien Duits

Approved: May 2020

Establishing and validating a SOP for state-of-the-art post-mortem analyses of fetal grafts in Huntington Disease patient’s brains

Replacing lost cells in Huntington’s Disease (HD) by transplantation seems like an intuitive treatment but bigger studies failed to prove efficacy. Analyzes of brains donated by HD patients who received transplants, demonstrated viable transplanted cells so the reason for this failure remains elusive. Only expanding our knowledge on graft integration can help us understand if this therapy can be made more effective. We therefore plan to analyze further donated post-mortem brains of HD patients by MRI imaging and state of the art histological analyzes to find out if and how strong grafted neurons integrated into the host’s brain.

Author: Philipp Capetian

Approved: January 2020

Exploring the efficacy of narrative interventions post predictive testing for HD: A pilot study

This study involves a pilot of a narrative group session to help support individuals post predictive testing for HD. The aims of the 2 hour session are to foster resilience and strengthen existing coping using narrative therapy principles. Three genetic counselling narrative groups will be held with 8-10 participants in each group. Individuals who consent to take part in the research will complete two short questionnaires before and after the session and will be invited to take part in a telephone interview two weeks later. The semi structured interview will explore individual experience of taking part in the group.

Author: Rhona MacLeod

Approved: April 2017

Investigating the therapeutic potential of manipulating DNA repair in Huntington’s disease

New evidence from genetics highlights DNA repair as a mechanism underlying HD and in this project we are exploring the changes in the DNA repair machinery. Intact DNA is vital in cells so all cells have machinery to fix DNA damage. To repair DNA the machinery needs to cut out the incorrect segment and replace it with the correct one. If it cuts in the CAG repeat, when the gap in the DNA is filled the machinery may loose count and inserts too many CAGs, leading to further expansion of the repeat. We know this expansion happens in HD and we are developing an assay to investigate this in many samples at once, in order to develop potential drugs to prevent CAG expansion.

Authors: Lesley Jones, Thomas Massey, Anne Rosser and Stephen Jackson

Approved: September 2015

Investigation of the effect of dopamine depletion on hippocampal-dependent cognitive function in Huntington’s disease patients

Huntington’s disease patients are commonly prescribed olanzapine, a serotonin and dopamine receptors antagonist due to its effect on chorea, sedation and weight. Previous work from our lab suggests that anti-dopaminergic drugs may also have an effect on cognition in HD.
The purpose of this study is to evaluate the effect of olanzapine and other anti-dopaminergic agents on cognitive function in early HD using the data collected in the REGISTRY study.
The study will enable us to get a better understanding of the impact of existing prescribing practices and dopaminergic modulation on the cognitive functions in Huntington’s disease.

Author: Roger Barker

Approved: August 2015

A pilot evaluation of mindfulness-based cognitive therapy for people with Huntington’s disease

It is acknowledged that many people at various stages of Huntington’s disease (pre-symptomatic and symptomatic) experience low mood, anxiety and other psychological difficulties. However, very little research has been conducted to investigate whether psychological therapies could help people with Huntington’s disease with these difficulties. While medication might be effective for some people, it is not suitable for all and psychological approaches should be developed. This study will provide the first indication of whether mindfulness-based cognitive therapy, a therapeutic approach with an established evidence base, would be acceptable and useful for people with Huntington’s disease with low mood.

Author: Jane Simpson

Approved: January 2014

Targeting the role of the Rab family GTPases in Huntington’s disease

The misfolding and aggregation of mutant huntingtin protein is a critical initiating factor in Huntington’s disease. Several cellular processes are disturbed due to this aggregation, including vesicle trafficking, which is required for movement of cargo within and between cells, and has been implicated in disease pathogenesis. Rab family GTPases play a crucial role in these cellular processes, and two members of this family are known to be neuroprotective in HD models. However, a systematic survey of these GTPases in models of Huntington’s models has not been performed, and therapeutic strategies targeting these genes are lacking. In this project will will implement genetic approaches to systematically interrogate the thera-peutic potential of Rab family GTPases in a human cell model of Huntington’s, with the aims of identifying novel therapeutic targets and clarifying the mechanisms underlying this process.

Author: Flaviano Giorgini

Approved: January 2013

Safety and tolerability of tetrabenazine in Huntington’s disease in clinical use – data from the REGISTRY cohort

Neuroleptics and Tetrabenazine are both used in order to treat chorea in HD patients. So far Tetrabenazine is not known to cause tardive dyskinesia – a severe possible complication of long use of neuroleptics. However, other side effects as depression and increased suicidality might be possi-ble. Little is known about interactions of Tetrabenazine with comedication, e.g. parallel use of tetrabenazine and neuroleptics. The aim of this retro-spective study will be to explore safety, side-effect profiles, duration of therapy, reasons for discontinuation, and data of exposure to co-medication in individuals with HD who used Tetrabenazine in comparison to Tiapride, which is frequently used to treat chorea off-label.

Author: Ralf Reilmann

Approved: September 2012

Improving function in Huntington’s disease through neurofeedback: using real-time fMRI to enhance cortical plasticity in early stages of the disease

The current project is a pilot study on the use of neurofeedback training using real-time functional MRI as a non-invasive intervention in Huntington’s Disease (HD). During neurofeedback training patients receive feed-back about the level of activity in a brain area, affected by the disease, and learn to selfmodulate their brain activation. The hypothesis is that by regulating and restoring function in affected brain regions, motor and cognitive function will also be restored. Following promising results in Parkinson’s Disease and depression, the current study will focus on early stage HD and collect preliminary data on the feasibility of the intervention.

Author: Sarah Tabrizi

Approved: September 2012

A survey of dietary intake in patients with Huntington’s disease

A deficient nutritional status may be an important determining factor in patients with Huntington’s disease, leading to increased comorbidity and social costs, and impaired quality of life. The aims of this study are to analyze the dietary intake of patients with presymtomatic and symptomatic Huntington’s disease, and to determine the association of the severity of motor, cognitive, psychiatric symptoms, and comorbidity with poor nutritional status in these patients. The determination of the nutritional status of patients with Huntington’s disease in its different stages, could help to introduce appropriate dietary measures to prevent complications, and to improve the quality of life of patients and caregiver burden.

Author: Esther Cubo

Approved: December 2011

Outreaching coordinated multidisciplinary care for Huntington’s disease patients

Most Huntington’s disease patients, together with their families, experience crisis-like events during the course of this progressive disease. Crises like fractures, resignation, divorce, or suicide attempts, seem related to the symptoms of the disorder. Experts in the field state that proactive multidisciplinary coordinated care for HD patients could reduce crises. This study aims to describe the crises prevalence and to investigate quality of life and caregiver burden. Multidisciplinary coordinated care will be provided to patients in their own homes. The study is set up to investigate the applicability and feasibility of a test protocol in preparation for a larger study on efficacy of this type of care.

Author: Ruth Veenhuizen

Approved: December 2011

Feasibility and benefit of inspiratory muscle training in people with Huntington’s disease.

A recent cross sectional study of respiratory function suggests that people with Huntington’s disease may have reduced strength of the breathing muscles, in the middle and late stages of the disease. Research in other neurodegenerative disease has shown that these muscles can be strengthened by using a small hand held device that provides resistance to the in-breath. This randomised, controlled feasibility study will investigate the benefit and perceptions of respiratory muscle training in 20 people with HD who have established respiratory muscle weakness. The primary outcome will be sniff nasal inspiratory pressure; adherence will be recorded by the device.

Author: Una Jones

Approved: July 2011

Development of predictive models to identify patients to recruit for clinical trials

Differences in the expression and progression of symptoms in individuals with Huntington Disease presents a significant challenge for clinical trials that are aimed at early intervention. It is important that individuals recruited into clinical trials include those that show measureable symptoms that progress within a reasonably short time period. We have used data from REGISTRY to identify a cohort of individuals who show a robust increase in motor symptoms over relatively short period of time. The aim of the present study is to develop predictive models to identify those that will progress in this manner.

Author: Anthony Vaccarino

Approved: December 2010

Memantine treatment in the REGISTRY cohort

The aim of this retrospective study will be to explore potential efficacy signals in individuals with HD who use memantine. We will review availability of datasets from the REGISTRY, number of visits available (follow-up duration), and doses applied. Our primary endpoint will be rate of decline in HDRS total motor score. Secondary endpoints will be rate of decline in UHRDS cognitive score, UHDRS^® functional assessment and total functional capacity. We will review the feasibility to compare the clinical readouts available to a group of matched subjects from the REGISTRY cohort on no treatment with Memantine.

Author: Jan C. Frich

Approved: April 2010

Understanding prescribing habits of existing potential neuroprotective substances in HD

It is unknown how many patients receive antioxidants and potentially neuroprotective substances in what dosages and to what effect. Understanding existing prescription habits, and their differences, is important to develop effective clinical trials of both existing and emerging potential neuro-protective substances. We propose a two step analysis. First we would like to analyse prescribing habits in the various countries contributing to REG-ISTRY. Second, because the use of over-the-counter medications may be underreported, we would like to involve investigators in a subset of Cen-tres to take part in a more systematic survey of the use of over-the-counter medications.

Author: Herwig Lange

Approved: June 2009

Depression in Huntington’s disease, its treatment and associations

Depression is common and disabling in Huntington’s disease. This project aims to look at rates of depression in the different sites and countries of the EHDN. We will also examine how commonly depression is treated in HD and the types of treatments, dosages and duration of treatment. Our final aim is to examine what factors influence the severity of depression in HD. These factors may include the CAG repeat length, type of HD, previous psychiatric history or a variety of other demographic factors. The study may thus shed light on treatment practices across Europe and identify risk factors for depression in HD.

Author: Hugh Rickards

Approved: December 2008

Reliability and minimal detectable change of measures of participation, functional activities and impairments in individuals with Huntington’s disease

Huntington’s disease (HD) may be amenable to physiotherapy in terms of restoring or maintaining functional abilities. To date, there has been relatively little research to substantiate this suggestion. One of the first steps in developing intervention trials is to choose appropriate outcome measures. The purpose of this multi-centre project is to evaluate various potentially suitable measures. We will recruit a total of 80 patients with HD to undergo two assessments, with a one-week gap between, on a range of functional measures that have been chosen to reflect a range of impairments and activity limitations seen in people with HD.

Author: Monica Busse

Approved: October 2008

Survey of Pharmaceutical interventions in JHD

There are no guidelines for the management of JHD. As a prerequisite to further studies and future statements about the quality of care for JHD we want to know the current prescribing habits: two approaches have been used: interrogation of the REGISTRY data on medications which have prescribed and a survey of parent/carers in the UK. The results have been collected and a publication is planned.

Author: Oliver Quarrell

Approved: June 2008

Utilisation of rehabilitation services in Huntington’s Disease

Patients with HD are at risk of falls. However, they may not be referred enough to physiotherapy for management of their mobility problems. We therefore plan to investigate the referral of HD patients in Europe for re-habilitation interventions as well as types of help and home adaptations required. In order to investigate this, we will use Registry data including UHDRS^® general history (age, age of onset, past medical history), UHDRS^® motor & function and health economics data. We will specifically consider physiotherapy, occupational therapy and speech therapy requirements. This may have implications for planning and justifying physiotherapy interventions and understanding the rehabilitation needs of patients with HD.

Author: Monica Busse

Approved: November 2007

Prescription habits in Huntington’s disease

An evidence-based treatment in Huntington’s disease (HD) is flawed by the lack of proven efficacy regarding pharmacological interventions presently used for symptomatic control. Disease modifying interventions are unavailable at this stage. Physicians or patients attitudes, biological factors or other variables may individually and regionally affect the way physician treat HD-related symptoms. The investigators aim at studying prescription habits in HD across the REGISTRY cohort: a first step comprehends the description of therapeutic habits in the cohort followed by the analysis of demographic and clinical variables and their contribution for the observed prescription patterns.

Author: Tiago Mestre

Approved: November 2007

Social cognition and quality of life in Huntington’s disease

People with Huntington’s and their families often report difficulties with social interaction. Research has also shown that HD can affect the ability to recognise emotions, and to reason about other people’s thoughts. This study will use cognitive tasks and questionnaires to show which social skills are most important for everyday functioning and the quality of life of both people with HD and their close others. This information will improve future care by supporting the design of a new assessment about the social side of HD. The assessment can then be used in medication trials and to develop new psychological treatments.

Author: Clare Eddy or Clare Eddy 2

Approved: April 2023

Monitoring prodromal hyperkinetic movements using body worn sensors in Huntington’s Disease

Motor symptoms may be of transient nature in prodromal and early HD. Thus, they may be missed upon clinic visits. Yet, there is a need for a more sensitive detection of early motor symptoms in HD, and for a sensitive progression marker in the transition from prodromal to motor HD. We use sensors to detect early motor signs of HD, aiming to facilitate an early motor diagnosis and monitor disease progression. Participants are equipped with 5 synchronized sensors to record involuntary movements while performing a set of different tasks. Coregistration of sensor data with video-recordings will allow us to develop algorithms that provide sensitive, objective and quantitative outcome parameters for detecting prodromal signs of HD.

Author: Franz Marxreiter

Approved: January 2021

Rasch Measurement Theory Analysis of longitudinal data of the UHDRS^® Scales in the EHDN REGISTRY Legacy database

Data generated with rating scales can inform treatment decisions or be used as outcomes in clinical trials. It is therefore important to use scales that are fit for purpose; this requires a complete understanding of their performance. The Unified Huntington’s Disease Rating Scale (UHDRS^®) was developed to measure the clinical features and course of Huntington’s disease (HD), a progressive neurodegenerative condition characterized by a mixed movement disorder, cognitive impairment and behavioural changes. HD. Based on an analysis of the UHDRS^® using Rasch Measurement Theory we aim to provide recommendations for improving the performance and interpretability of the UHDRS^®.

Author: Jean-Marc Burgunder

Approved: February 2019

Fitness-to-Drive in Huntington’s disease

Driving a car is important to people: it brings mobility and independence. This also holds true for people with HD. But, obviously, there comes a time when this is no longer possible. Very early on driving is not (yet) impaired; very late into the disease it is clearly impossible. But where is the divide?
We try to answer this by questioning partners and acquintances, by performing specialized psychological tests, and by assessing performance in a driving simulator and on-road. The psychological tests not only measure cognitive abilities (e.g. reaction speed, attention), but also so-called social-cognition tests that judge functions like self-reflection and risk-taking.  Thus, we hope to come up with measures that provide a well-founded and personalized advice on fitness to drive for individuals with HD.

Author: Berry Kremer

Approved: January 2017

Skeletal muscle metabolic responses to physical exercise in clinical HD trials

Metabolic abnormalities and mitochondrial dysfunction in peripheral tissues such as skeletal muscle are components of the pathophysiology of HD. There is evidence to suggest that these differences in metabolic function lead to stimulation of anaerobic energy supply pathways associated with increased plasma lactate concentrations in response to exercise. The aims of this project are: a. to establish minimally invasive fine needle muscle biopsies as a tool to evaluate differences in metabolic gene expression profiles in response to acute exercise between HD patients and age matched controls and, b. to develop suitable endurance exercise programmes adapted to the capabilities of HD patients for future exercise training studies.

Author: Martina Velders

Approved: January 2014

The swallowing disorder in Huntington’s disease (HD): an observational, longitudinal study

Dysphagia is a common condition in Huntington´s Disease (HD). With the progression of the underlying disease the swallowing function worsens. In particular, the risk of aspiration increases, which is associated with bronchopulmonary infections and mortality. Little is known about onset, prevalence and characteristics of dysphagia in HD. Our aims are to describe frequency, onset and progression of dysphagia in HD and to determine feasibility and reliability of measurement methods that are potentially suitable for HD patients. Therefore we are currently investigating HD patients (2 centers, 60 patients) at a baseline visit and one follow-up visit using swallowing and nutrition questionnaires, a clinical swallowing examination, fiber endoscopic evaluation of swallowing and the UHDRS^®.

Authors: Falk Schradt; Christina Lang

Approved: September 2013

Longitudinal evaluation of the Registry cognitive battery across the different stages of Huntington’s disease

The Registry study provides an opportunity to carry out a longitudinal, international study of the most commonly used cognitive tasks in Huntington’s disease (HD). In HD cognitive decline can start early, can be objectively measured and influences the functional independence of an individual. This indicates that cognitive measures have the potential to be used as outcome measures in future clinical trials. But first it is pertinent to evaluate the efficacy of the Registry assessment in terms of tracking disease progression through the stages. This information is extremely important for developing future clinical trials.

Author: Verena Rödig

Approved: July 2013

PHASE1-HD: a pilot phase-contrast MRI study of cerebrospinal fluid dynamics in Huntington’s disease

Cerebrospinal fluid, or CSF, is a clear liquid which surrounds the brain and spinal cord. Research in Huntington’s disease animal models suggests CSF flow might be altered in HD, which could be important for new drugs that may be injected into the CSF. A scanning technique called Phase Contrast MRI enables CSF flow to be studied non-invasively. PHASE1-HD will develop the Phase Contrast technique for HD and test it in 10 patients and 10 controls to help understand CSF flow and design larger trials of the technique.

Author: Ed Wild

Approved: January 2013

Smart phone App and optical motion sensing devices (Kinect/X-Box) as tools to assess motor function in HD – a Pilot Study

Our project aims to develop easy-to-use electronic tools to objectively assess the motor impairment in people with Huntington’s disease. Motor symptoms such as chorea are debilitating diseases symptoms and also important readouts for therapeutic and genetic studies. However, objectively recording and quantifying motor symptoms remains challenging. We have developed a prototype app that takes advantage of the sophisticated movement sensors built into standard smart phones to detect and quantify hand and limb movements. This tool is currently being optimized and validated for use in the clinical assessment of patients and controls.

Author: Patrick Weydt

Approved: May 2012

Theory of Mind Deficits in Huntington’s Disease

BACKGROUND: Studies suggest Huntington’s disease (HD) can be associated with changes in emotions and social behaviour. We are researching the changes that some patients show when they are asked to think about other people’s beliefs and emotions.
AIMS: This study will help us to understand the brain basis for patients’ difficulties on particular social cognitive tasks and ultimately, some of the behavioural changes seen in HD.
METHODS: People with HD will complete tasks which involve thinking about people’s emotions while undergoing brain scanning. Some of the patients taking part in the study have the HD gene but have not yet developed movement symptoms so that we can investigate relationships between social and emotional changes in HD and disease onset and progression.

Author: Clare M. Eddy

Approved: August 2011

Revisiting the Stroop test as a measure of cognitive deficits

The proposed project aims at a detailed analysis of UHDRS^® cognitive assessments employed in the REGISTRY study. Particular focus shall be on the Stroop test. Here, it is our interest to compare the subscores from the colour, word and interference card, as well as other scoring methods derived from these raw scores.
On the one hand we would like to understand how the above scores develop as HD progresses. In addition, we hope to figure out the extent to which performance on these tests is influenced by other factors such as the UHDRS^® Total Motor Score, age and education.
Thereby we hope to understand in more detail the dimensions of HD that are measured by the Stroop test and to provide potential optimising strategies for both, the testing procedure as well as its evaluation.

Author: Nathalia Weber

Approved: May 2011

Analysis of the behavioural UHDRS^®

In our first publication (Rickards et al, 2010) the Behavioural Working Group of the EHDN defined distinct behavioural patterns within HD, comprising a depressive factor, a dysexecutive factor, an irritability factor and a psychosis factor. Starting from this point, we plan to analyze, as a next step, the dependence of those factors on important clinical variables like sex, stage of disease, motor and cognitive functions, age of onset, duration of the disease, psychiatric medications and psychiatric history. Furthermore, we are interested in regional differences of the behavioural patterns of the whole area of EHDN.

Author: Raphael Bonelli

Approved: March 2011

The relationship of chorea with function and cognition

HD is characterized by progressive motor impairment. These motor disturbances can be divided into two subgroups: the more rigid type (hypokinetic) and the more choreatic type (hyperkinetic). Patients with HD become increasingly more disabled in their activities of daily living as the disease progresses. Also, their cognitive capacities decline over time, eventually resulting in a dementia. The clinical impression of many neurologists is that those with severe chorea seem to function better compared to the more rigid patients. Up to date this has not been investigated thoroughly, therefore we make use of the extended REGISTRY-database of EHDN to study this clinical idea. In this project we aim to investigate the differences in general and cognitive functioning between predominantly choreatic and predominantly rigid HD patients.

Author: Raymund Roos

Approved: January 2011

Investigation of Time Course and Functional Impact of Voluntary Motor Function Impairment in Huntington’s Disease

The UHDRS^® motor scale includes assessment for eye movement abnormalities, voluntary motor function and involuntary movements. The aim of this work is to examine the impact these three clinical domains on the functional decline HD as measured by UHDRS^® functional assessments in 300 patients obtained from the REGISTRY data base. We will also measure the rate of decline in these measures over one year of progression of disease, as well as the impact of concomitant medications, demographic factors and CAG repeat length. It is hypothesized that voluntary motor function is more closely linked to functional impairment in HD than involuntary movements. The voluntary motor function score may thus be more useful for studying effects of experimental therapeutics and to monitor progression of HD over time.

Author: Joakim Tedroff

Approved: February 2009

The familiarity of psychiatric symptoms in Huntington´s disease

A wide range of behavioural problems are commonly seen in HD, including depression, anxiety, obsessive-compulsive symptoms, irritability, aggression, disinhibition and apathy. Improved understanding of the cause (or causes) of such psychiatric symptoms independent of the HD gene is critical to developing effective treatments and consequently improving the quality of life of patients. This study aims to determine whether certain psychiatric symptoms cluster in families affected with HD. This will be achieved by conducting a thorough, standardised interview of 80-100 families with sibling pairs with HD as well as any siblings without the HD gene.

Author: Jenny Keylock

Approved: February 2009

The accuracy of the estimation of age at onset of motor signs in HD

In Huntington’s disease (HD) the accurate determination of age at onset is important for counselling patients and critical if one tries to develop and evaluate therapies that aim to delay it. Here we compare the REGISTRY raters’ estimates of age at onset with estimates calculated using a number of algorithms such as the Langbehn or the Aylward fomula. A second aim is to calculate disease progression using data from at least three visits. Thirdly, we use longitudinal data for (backwards) extrapolation of actual age at onset and a comparison with rater’s estimates and formula estimates.

Author: Michael Orth

Approved: December 2008

Towards an improved Functional Rating Scale for Pre-Huntington’s Disease

Current functional ratings scales are insensitive and unsuitable for pre-manifest and early Huntington’s disease (HD) subjects. Because functional outcomes are very important in drug development a new functional rating scale is needed for this subgroup. We propose to use an item response theory (IRT) approach to characterize symptoms (including psychiatric, cognitive, motor and quality of life domains) in pre-HD and all stages of HD. With data from REGISTRY, we will analyze the relationship between the score assigned to a scale item and the overall severity of HD. This analysis will identify suitable items from pre-existing scales that are particularly relevant for pre-HD and early HD, and provide valuable information that will guide the development of a new and sensitive functional scale for this particular patient sub-group.

Author: Aileen Ho

Approved: October 2008

Reliability and minimal detectable change of measures of participation, functional activities and impairments in individuals with Huntington’s disease

Huntington’s disease (HD) may be amenable to physiotherapy in terms of restoring or maintaining functional abilities. To date, there has been relatively little research to substantiate this suggestion. One of the first steps in developing intervention trials is to choose appropriate outcome measures. The purpose of this multi-centre project is to evaluate various potentially suitable measures. We will recruit a total of 80 patients with HD to undergo two assessments, with a one-week gap between, on a range of functional measures that have been chosen to reflect a range of impairments and activity limitations seen in people with HD.

Author: Monica Busse

Approved: October 2008

Measuring outcomes in Huntington’s disease (HD)

Rating scales are important because they are the principal outcome measures used in drug trials. The REGISTRY data can be used to assess the performance of the rating scales. Two different analytic approaches were used: “traditional” psychometric methods and Rasch analysis. This enabled us to construct a detailed and sophisticated picture of the motor, total functional capacity and functional assessment subscales of the UHDRS^®, identify their strengths and weaknesses, and provide recommends to maximise their ability to measure the impact of HD. The results are available as a report to EHDN and are the basis of a grant application to develop improved outcome measures for drug trials.

Author: Oliver Quarrell

Approved: June 2008

Late stage HD: phenotype and current management

The clinical characteristics of late-stage Huntington’s disease (LS-HD) have not been extensively documented. The prevalence of LS-HD may, however, increase since with better general health care and possibly better clinical management patients with HD will live longer. Knowledge of the magnitude and causes of patients` disability may allow to improve the care of LS-HD patients` and to focus therapeutic interventions. Using data from REGISTRY we therefore will first describe the phenotype of LS-HD and the current management practice. We will then analyse the contribution of each symptom complex (motor, behaviour, cognitive etc) to the phenomenology of LS-HD.

Author: Miguel Coelho

Approved: November 2007

The use of depression rating scales in patients with HD

Depression is a common, yet treatable complication of HD. Its recognition and assessment with the most valid rating scales is therefore very important. The Beck Depression Inventory (BDI) and the Hamilton Depression Rating Scale (HAM-D) are currently used in the REGISTRY study. However, they may not be ideal since they also measure e.g. physical symptoms of a degenerative disorder such as HD. Our goals are to evaluate the validity of the BDI and the HAM-D against the UHDRS^® Behavioural Scale. In addition, Principal Components Analysis intends to find out how helpful individual items are in measuring depression.

Author: Jenny Keylock

Approved: November 2007

Pain in Huntington’s Disease

Pain is often reported by patients with Huntington’s Disease (HD) and needs further study.  The aim of this study is to assess the prevalence of pain, pain interference on daily activities, painful conditions, and the use of painkillers across the different stages of HD and to compare these prevalence to those without HD. Compared to the Enroll-HD dataset, the Registry dataset also includes a pain intensity scale, which provides a unique opportunity to more comprehensively assess the relationship between HD (severity) and pain, in order to get a better understanding of pain in HD and to improve pain management.

Author: Gregory Sprenger

Approved: January 2021

CAG and Age of Death: A Reanalysis

In HD, the length of the CAG trinucleotide expansion is clearly linked to the age of disease onset.  However, there is controversy about the influence of CAG repeat length after the onset of disease. Recently, it was claimed that, after considering the age of onset, the CAG length plays no further role in predicting the lifespan of persons with HD. This claim was based partly on an analysis of the EHDN data. As a biostatistician with many years of HD research experience, I will reanalyze that data to see if I can draw the same conclusion.

Author: Douglas Langbehn

Approved: December 2018

Clinical characteristics of the Huntington disease mutation carriers in Russia

So far, no comprehensive clinical characterization of HD mutation carriers in Russia has been conducted. The proposed project is intended to provide a comprehensive clinical description of Russian HD mutation carriers based on the data collected within REGISTRY study — a multisite, prospective, observational study of HD mutation carriers and control subjects with annual follow-up visits. We seek to obtain genotype and phenotype characteristics of HD mutation carriers and to compare treatment approaches in Russia and other countries which participated in the REGISTRY study.

Author: Yury Seliverstov

Approved: December 2017

Steady State Simulations study in HD

Failure to renew the pool of active participants and the natural progression of ones recruited tend to drift the population in longitudinal observational studies towards older age and higher degrees of severity.
We seek to develop a set of numerical and statistical simulations that will help understand how manipulations of the entry and exit of participants from the active pool of Registry can impact in the long term stability of that pool in terms of distribution of types of participants and total number of participants. The goal is to understand the pattern of recruitment and dropout rate in Registry.

Author: Daisy de Abreu

Approved: August 2017

Prevalence and clinical correlates of homozygosity in Huntington´s disease

Because patients homozygous for Huntington´s disease (HD) receive the gain-of-function mutation in a double dose, one would expect a more toxic effect in homozygotes than in the heterozygotes. The goal of this study is to investigate the phenotypic differences between the two genetic groups (homozygote with both alleles > 36 CAG repeats, and heterozygote with one allele > 36 CAG repeats) in terms of onset of symptoms, phenotypic presentation and disease progression.

Author: Esther Cubo

Approved: December 2016

Evaluating the effect of substances abuse on disease progression in HD

Studies have shown that substances of abuse (tobacco, alcohol, drugs) lead to an earlier age of motor onset of HD. However, there is no data looking at how these substances affect patients with HD over time. Therefore, we are using the Registry dataset to see if these substances have an effect on motor scores, total functional capacity, and other markers of disease progression. If we are able to more accurately understand the effect that substances of abuse have on disease progression, we would like to look at other agents, such as medications that may impact progression of HD.

Author: Jordan Schultz

Approved: October 2016

Clinical and genetic characteristics of late onset Huntington’s disease

Age at onset of Huntington’s disease (HD) for most patients is in their forties. However for a substantial part of HD patients symptoms and signs start after 60 years of age. We wish to investigate this group of patients for phenotype, disease progression, CAG repeat length and family history. Several recent studies have been done, confirming that the main symptom in late onset HD are mild motor symptoms. However some confirm that negative family history is significantly higher in late onset others cannot support this. Diagnosing late onset HD might be challenging, especially when the family history is negative and chorea is the main feature. Our aim is to investigate if late-onset HD differs from usual onset in phenotype, disease progression, CAG repeat length and family history.

Author: Mayke Oosterloo

Approved: October 2016

Do autoimmune neuroinflammatory diseases influence the course of HD? Co-incidence of HD and MS, CIS or acute myelitis transversa

This project aim is to investigate the influence of clinical isolated syndrome (CIS), multiple sclerosis (ED), and acute myelitis transversa (MT) as typical neuroinflammatory diseases on i) the age of onset (AO) and ii) the course of HD. We expect only a small number of patients suffering from both HD and one of the following: CIS, ED or MT. As control group we ask for data of AO from other HD patients carrying the same CAG repeat length. It is still unclear if neuroinflammation in HD is a reactive process or if there is an active influence on disease progression. Further understanding of the influence of inflammation in HD may open various avenues for promising therapeutic approaches aiming at slowing disease progression or forestalling onset of disease (Ellrichmann et al., 2013).

Authors: Gisa Ellrichmann, Carsten Saft

Approved: August 2016

Pain in Juvenile Huntington’s disease

Some individuals manifest Huntington’s disease before 21 years-old and are classified as juvenile HD (JHD). Our clinical experience suggests that chronic intractable pain is an under-appreciated feature in JHD. The purpose of this study is to determine the frequency of pain in JHD using data from REGISTRY and the JHD substudy. Additionally, we will determine the influence of demographics, family history, genotype, phenotype, medication, co-morbidities on pain frequency. Ultimately we hope to build on these data to produce an evidence-based guideline for managing pain in JHD.

Author: Filipe Brogueira Rodrigues

Approved: May 2016

The effect of homozygosity of the huntingtin mutation

There is debate regarding whether, in the rare event that a person has a CAG expansion in both copies of the huntingtin gene (homozygosity), their age of onset and their progression in HD is affected. Among current HD databases, EHDN Registry possibly contains the largest number of such subjects. We will statistically model the effect of this second elongated HD allele in an attempt to clarify the clinical effect, if any.

Author: Douglas Langbehn

Approved: September 2015

Computational outlier analysis of GWA phenotypic dataset- a machine learning exercise

CHDI with collaboration of PsychoGenics (PGI) will explore the use of combinations of clinical features to identify phenotypically unusual individuals via machine learning approach, with an initial stage of analysis to involve patient classification by phenotypic feature values and differences between feature-to-feature relationships.
The objective is to have a model that explains the response variable in terms of how all other features would allow one to define explanatory features’ ranks, and will provide a qualitative insight of what’s important for defining HD severity by phenotypic characteristics. In addition, we will apply PGI exclusive outliers identification technique which defines an outlier as a data instance on which the classifier was trained on, and yet unable to recognize to that data instance.

Authors: Anna Begelfer-Ostrovski, Seung Kwak

Approved: September 2015

Modeling HD Clinical Assessments and Comprehensive HD Progression

Data will be used towards the following analyses, as part of CHDI/IBM collaboration:
Clinical Assessment – predictive statistical models combined with variable-selection will be applied to both imaging and non-imaging clinical datasets and used to detect most relevant groups of clinical variables to produce new biomarkers.
Machine Learning for Comprehensive HD Progression Modeling – advanced machine learning and data mining methodologies for data driven healthcare analytics developed by the IBM Healthcare Analytics Research Group will be applied to the multiple sets of longitudinal data covering multiple domains collected by the HD research community.
These models will support more effective clinical trial design, provide guidance to new experiments by identifying gaps, and provide researchers in different domains with a more integrated view of disease states and progression.

Authors: Anna Begelfer-Ostrovski, Cristina Sampaio

Approved: September 2015

Disease progression models for Huntington’s disease using population analysis

The development of disease progression models for Huntington’s disease (HD) will help to understand the disease mechanism, predict disease diagnosis and progression, and provide a framework to evaluate new therapeutic agents in HD that potentially slow down the disease progression, delay and eventually prevent the disease onset. By using population analysis approaches, we aim to quantitatively assess the longitudinal changes of various HD clinical rating scales and tests in domains of motor function, cognition, behavior and functional capacity. We will also determine and evaluate the possible demographic, genetic, and medical-related factors that contribute to the variability in disease progression.

Author: Xiaomeng Jiang

Approved: July 2015

The progression of different motor subtypes in Huntington’s disease and their relationship to general and cognitive functioning

The aim of the project is to investigate the progression of different motor subtypes in Huntington’s disease (HD) and their relationship to general and cognitive functioning. We want to investigate if the motor disturbances seen in HD change from predominantly choreatic to predominantly hypokinetic-rigid when the disease progresses. A previous cross-sectional study showed that predominantly choreatic patients perform better on general and cognitive assessments. The Registry database gives an opportunity to study this further on a large scale and longitudinally. Longitudinal study of the motor subtypes could provide a better understanding of the different motor phenotypes in HD and may have implications for future care and clinical trials.

Author: Milou Jacobs

Approved: May 2015

Huntington disease- prevalence and disease severity in Jämtland and Uppsala

The aim of our study is to estimate the prevalence of Huntington’s disease (HD) in the two countries Jämtland and Uppsala in Sweden. We want to compare the symptom severity between HD patients followed by a multi-disciplinary team in Uppsala and HD patients in Jämtland, who do not have access to similar care. Then we want to compare the disease severity in the Swedish patients and in patients from the rest of Europe, using the Registry data.

Author: Anna-Karin Roos

Approved: December 2014

Investigating irritability in Huntington’s Disease; is there a relationship between executive dysfunction and irritability (both internally and externally-directed)?

We are performing a study that looks at how people with Huntington’s Disease become irritable. We have divided irritability into that directed at other people, which can be recognised as shouting, snapping and sudden out-bursts; and that directed towards oneself. We know that some people with Huntington’s Disease have problems performing certain mental tasks. We predict that irritability directed at others may be related to problems with processing lots of information at once. To investigate this, we will use data from performance on cognitive tasks which probe the ability to deal with mental interference, and establish whether this relates to irritability.

Author: Sophie Green

Approved: July 2014

Estimating costs of health and social care resource use associated with Huntington’s disease in the United Kingdom

As Huntington’s disease (HD) progresses, intensive support from health and social care services is likely to be needed yet little is known about the economic cost of HD. This project will use REGISTRY data on health and social care use, informal care time and impact on employment to estimate an annual cost per person with HD in the UK, stratified by age and disease severity. Identifying the patterns and cost of service use associated with HD could potentially lead to improved resource allocation and ultimately care for people with HD.

Author: Monica Busse

Approved: July 2014

The Economics of Huntington’s Disease

Research underway will begin to examine under-explored economic aspects of HD by using individual participant data from the EHDN. The research has two streams: i) estimation of resource use/costs of care for people with HD and; ii) estimation of health outcomes data (health state values) suitable for use in health policy contexts. Such health state values are needed to calculate quality-adjusted life-years (QALYs), which are used for exploring the effectiveness of treatments and their value for money. This research aims to highlight the impact of HD and provide information for use in decision-making regarding the care of people with HD.

Author: Annie Hawton/Colin Green

Approved: April 2014

Psychological predictors of pain in people with Huntington’s Disease

The proposed project is a data mining study to identify psychological factors that predict pain severity in people with Huntington’s Disease (HD) at their most recent assessment and develop a model to account for the variance in pain severity. Factors to be investigated include low mood, anxiety, aggression, irritability, apathy, delusions and hallucinations with ordinal regression being used to analyse the data. The secondary aim of this research is to gain an understanding of the prevalence of pain in HD. This will be considered alongside the disease stage, to investigate whether pain severity differs according to disease stage.

Author: Mandy Underwood

Approved: January 2014

Prevalence and clinical correlates of the intermediate CAG repeats in Huntington’s disease

The underlying genetic cause of HD is a CAG trinucleotide repeat expansion in the HTT gene. CAG expansions above 39 account for the majority of HD presentations. CAG expansions in the 27-35 range are referred to as intermediate alleles. Based on last reports, it remains controversial whether intermediate alleles can cause HD. In this study, we will use data from the EHDN registry and include participants with intermediated CAG repeats (>27-35, cases) and controls (< 27 CAG repeats). The aim of this study is to determine the prevalence and clinical characteristics of intermediate CAG repeats carriers, which might have important implications for the pathogenesis of the disease and genetic counseling. Author: Esther Cubo

Approved: September 2013

Completed suicide in a European Huntington’s disease population

Although the prevalence of suicide in Huntington’s disease (HD) is four to eight times higher compared with the general population, no prospective studies on risk factors of completed suicide in HD have been carried out so far. In this study we aim to identify the incidence rate of completed suicide in the REGISTRY population. Furthermore, we aim to determine sociodemographic, clinical, and neuropsychiatric predictors of completed suicide in HD.

Author: A.A.M. Hubers

Approved: September 2013

Huntington’s disease causes of death: a prospective observational study

It is well known that Huntington’s disease (HD) patients experience premature death. Nevertheless, HD mortality has not been extensively studied and additional knowledge on causes of death is important to plan care and supportive services for HD patients and their families.
With this study we propose to evaluate HD patients causes and places of death, the time between symptoms onset/diagnosis and death and the overall survival of HD patients. Additionally, we intend to determine the influence of demographics, family history, genotype, phenotype, medication and co-morbidities on the above-mentioned variables.

Author: Filipe Brogueira Rodrigues

Approved: July 2013

Suicidal ideation and behaviour in a European Huntington’s disease population

In this study we aim to identify the lifetime prevalence, incidence rate, and severity of suicidal ideation and behaviour according to the Columbia Suicide Severity Rating Scale (CSSRS) in the Registry population. Furthermore, we also aim to determine sociodemographic, clinical, and neuropsy-chiatric associations and predictors of suicidal ideation and behaviour.

Author: Erik van Duijn

Approved: July 2013

Cancer prevalence in HD

Studies in Scandinavian cohorts have found that people with expanded repeats in their HD gene (HTT) and their SBMA gene (the androgen receptor, AR) have significantly reduced cancer incidence. We wish to explore these findings further and examine the relationship between the CAG repeat in HTT and cancer prevalence in the EHDN Registry population. We will access the medical history, comorbidity and medication data to examine cancer incidence and prevalence. Though it is unclear how increased CAG length could mediate cancer risk, determining the relationship between CAG length in HTT may reveal fundamental biology underlying both cancer risk and neurodegeneration.

Author: Lesley Jones

Approved: March 2013

Does age of onset affect the clinical phenotype and its progression in adult onset Huntington’s disease? An observational 5 year follow up study

It is established that the age at onset of Huntington’s disease is affected by the size of CAG repeats. It is also known that patients with juvenile onset (below the age of 20 years) have different physical characteristics such as more akintetic rigid (Parkinsonian) features. On the other hand, patients with late onset disease (over 50 years) could have more cognitive features. However, it is not clear whether age at onset affects the clinical manifestations of the disease in the most commonly affected age group (30-60 years). Understanding such differences would have implications in managing patients in terms of counselling on prognosis, and for measuring effects of drugs. This study aims at studying the effect of age at onset on the clinical features of HD (motor, psychiatric and cognitive) and the rate of symptom progression.

Author: Sundus Alusi

Approved: March 2013

Late-onset Huntington’s disease

Huntington’s disease (HD) is a neurodegenerative disease clinically characterized by the triad of an extrapyramidal movement disorder, cognitive decline, and behavioral changes. HD is caused by an abnormal expansion of CAG-triplets in the huntingtin gene. Carriers of this mutated HD gene typically first develop symptoms in their mid-thirties to mid-forties, but age of onset for HD ranges from early childhood to the seventies and eighties. Little is known on the natural history of late-onset HD. The aims of this project are to characterize the phenotype and to determine the progression of patients with late-onset HD.

Author: Fabienne Sprenger

Approved: January 2013

CAG repeat length and JHD

It is frequently stated that the patients with JHD have more than 60 repeats. This is partially correct. In fact the median CAG repeat length is around 60 and in some cases JHD patients may have a CAG repeat length in the 40’s. Descriptive data on the age of onset and CAG repeat length for JHD patients will be analysed. The negative correlation between age of onset and CAG repeat length is well established but in two populations Andressen et all (Ann Hum Genet 71:295-301, 2006) demonstrated a better fit with a two segment regression line. The inflection points were at 53 and 49 CAG repeats in the respective populations. The aim of this data mining project is to establish descriptive statistics for the spread of the age of onset of JHD patients and to obtain a third result for an inflection point in a two segment analysis of the correlation between age of onset and CAG repeat length.

Author: Oliver Quarrell

Approved: December 2012

COHORT vs REGISTRY – comparison of two similar observational cohort studies on two continents

As HD is relatively rare, we need advanced, multi-centre, multi national frameworks that allow us to study simultaneously multiple complementary aspects of HD. This includes the natural history of HD, its management and the collection of clinical information and biosamples for research. In the analysis of the Registry cross-sectional data it was shown that across different European regions CAG repeat genotypes and phenotypes were similar, suggesting that treatment results are generalizable across Europe. We do not know, whether this holds true for North-America. We therefore plan to investigate whether there are any differences in genotype, phenotype or treatment characteristics between Europe and North-American HD patients, using the Registry and Cohort databases.

Author: Christine Tritsch

Approved: September 2012

Prevalence rates and course of suicidality and its socio-demographic and clinical associations in persons with Huntington’s disease

Suicide is a relatively frequent cause of death among patients with Huntington’s disease. Various studies show that patients with Huntington’s disease commit suicide four to eight times more often than persons from the general population. The risk of suicide seems to be related to the development of the disease and the loss of independence, and may not always be related to depression. This REGISTRY data mining project aims to identify 1) prevalence rates and severity of suicidality using the UHDRS^® behavior section, and 2) associated socio-demographic and clinical characteristics.

Author: Erik van Duijn

Approved: March 2011

The impact of biological and environmental factors on independence in Huntington’s Disease

Huntington’s disease invariably leads to debilitating motor signs, cognitive decline and sometimes behavioural signs. In the course of the illness patients loose the ability to live independently. The impact of HD on patients’ independence can have a great effect on the patients’ sense of well-being. Thus it is important to identify factors that influence independence in order to promote those factors that maintain independence and try and avoid those that negatively influence it. We wish to use the REGISTRY data to identify some of these factors. The results of the study may help clinicians in their management of HD patients.

Author: Michael Orth

Approved: January 2011

Using Registry data to inform choice of outcome measures and optimal design of future clinical trials in Huntington’s Disease

The aim of this project is to use statistical modelling of longitudinal data from the Registry cohort to inform the design of future randomised controlled trials in Huntington?s Disease. The project will explore the potential of a range of functional, cognitive, and motor score variables as possible clinical trial outcomes. Questions concerning the optimal length of trials, the ideal frequency of interim visits, the best inclusion criteria and the merits of alternative designs such as those in which all patients are ultimately given an active treatment, will all be addressed.

Author: Chris Frost

Approved: November 2010

A data mining project investigating psychosis in Huntington’s Disease

Psychotic symptoms have a higher prevalence rate in HD patients compared to the general population. This data mining project aims to identify the prevalence and incidences of delusions and hallucinations in the REGISTRY data. The data will then be compared to identify any differences between the data sets of those who report these symptoms and those who do not. Further analysis is also expected to be carried out between those who only report hallucinations and those who only report delusions. The data sets will comprise of demographics, history, CAG, medication, motor, cognition, behaviour, function and TFC subscales of the UHDRS^®.

Author: Jennifer Crooks

Approved: July 2010

Data quality in REGISTRY: completeness, plausibility and the effect of monitoring

REGISTRY, EHDN’s observational study, collects phenotypic and biological data. REGISTRY aims for high quality data. To this end, REGISTRY adheres to the principles of GCP, similar to a clinical trial, and employs data monitoring. This project aims to appraise critically 1) data quality, and 2) the quality control measures employed in REGISTRY. First we will evaluate the completeness of data entered into the data base. Second, we wish to use the data to define what is ‘plausible’. Third, we wish to examine the effect of monitoring on the above. The outcome will help 1) define what is good quality data 2) improve the monitoring process.

Author: Michael Orth

Approved: April 2010

Defining the phenotype of Huntington’s disease in Europe: The European Huntington’s disease Network Registry Study

Registry aims to study the natural history and clinical care of individuals affected by and at risk of developing Huntington’s disease. The establishment of this cohort will facilitate trials of putative HD treatments and will enable meaningful analysis of both major topics requiring large absolute sample sizes, and topics requiring smaller numbers of patients from sub-groups of interest across centres. The organisation of Registry together with its emphasis on the collection of high quality of data has never been done in this way. Therefore, the focus of our analyses will be to describe the main characteristics of the population sample and the type and quality of data collection. In summary, this report will aim to provide an overview of the scale, scope and potential of Registry.

Author: European Huntington’s Disease Network

Approved: June 2008

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• EHDN 2022 Plenary Meeting (September 16-18, 2022): J Neurol Neurosurg Psychiatry 2022 93(Suppl 1)

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• Crowell V, Houghton R, Tomar A, Fernandes T, Squitieri F. Modeling Manifest Huntington’s Disease Prevalence Using Diagnosed Incidence and Survival Time. Neuroepidemiology. 2021;55(5):361-368. doi: 10.1159/000516767. Epub 2021 Jul 15. PMID: 34350853
• van Duijn E, Fernandes AR, Abreu D, Ware JJ, Neacy E, Sampaio C. Incidence of completed suicide and suicide attempts in a global prospective study of Huntington’s disease. BJPsych Open. 2021 Aug 31;7(5):e158. doi: 10.1192/bjo.2021.969. PMID: 34462049
• Ghazaleh N, Houghton R, Palermo G, Schobel SA, Wijeratne PA, Long JD. Ranking the Predictive Power of Clinical and Biological Features Associated With Disease Progression in Huntington’s Disease. Front Neurol. 2021 May 20;12:678484. doi: 10.3389/fneur.2021.678484. eCollection 2021. PMID: 34093422
• Griffin BA, Booth MS, Busse M, Wild EJ, Setodji C, Warner JH, Sampaio C, Mohan A. Estimating the causal effects of modifiable, non-genetic factors on Huntington disease progression using propensity score weighting. Parkinsonism Relat Disord. 2021 Feb;83:56-62. doi: 10.1016/j.parkreldis.2021.01.010. Epub 2021 Jan 13. PMID: 33476879
• Hentosh S, Zhu L, Patino J, Furr JW, Rocha NP, Furr Stimming E. Sex Differences in Huntington’s Disease: Evaluating the Enroll-HD Database. Mov Disord Clin Pract. 2021 Mar 8;8(3):420-426. doi: 10.1002/mdc3.13178. eCollection 2021 Apr. PMID: 33816672
• Horta-Barba A, Martinez-Horta S, Perez-Perez J, Sampedro F, de Lucia N, De Michele G, Salvatore E, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, Rodriguez N, Martinez-Descals A, Júlio F, Janurio C, Delussi M, de Tommaso M, Noguera S, Ruiz-Idiago J, Sitek EJ, Wallner R, Nuzzi A, Pagonabarraga J, Kulisevsky J; on behalf the Cognitive Phenotype Working Group of the European Huntington’s Disease Network. Arithmetic Word-Problem Solving as Cognitive Marker of Progression in Pre-Manifest and Manifest Huntington’s Disease. J Huntingtons Dis. 2021;10(4):459-468. doi: 10.3233/JHD-210480. PMID: 34602494
• Jones L, Wheeler V, Pearson CE. Special Issue: DNA Repair and Somatic Repeat Expansion in Huntington’s Disease. J Huntingtons Dis. 2021;10(1):3-5. doi: 10.3233/JHD-219001.PMID: 33554921
• McAllister B, Gusella JF, Landwehrmeyer GB, Lee JM, MacDonald ME, Orth M, Rosser AE, Williams NM, Holmans P, Jones L, Massey TH; REGISTRY investigators of the European Huntington’s disease network. Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease. Neurology. 2021 May 11;96(19):e2395-e2406. doi: 10.1212/WNL.0000000000011893. Epub 2021 Mar 25. PMID: 33766994
• McDonnell EI, Wang Y, Goldman J, Marder K. Age of Onset of Huntington’s Disease in Carriers of Reduced Penetrance Alleles. Mov Disord. 2021 Dec;36(12):2958-2961. doi: 10.1002/mds.28789. Epub 2021 Sep 18. PMID: 34536046
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• Mohan A, Sun Z, Ghosh S, Li Y, Sathe S, Hu J, Sampaio C. A Machine-Learning Derived Huntington’s Disease Progression Model: Insights for Clinical Trial Design. Mov Disord. 2022 Mar;37(3):553-562. doi: 10.1002/mds.28866. Epub 2021 Dec 6.PMID: 34870344
• Ogilvie AC, Nopoulos PC, Schultz JL. Quantifying the Onset of Unintended Weight Loss in Huntington’s Disease: A Retrospective Analysis of Enroll-HD. J Huntingtons Dis. 2021;10(4):485-492. doi: 10.3233/JHD-210488. PMID: 34633327
• Ogilvie AC, Nopoulos PC, Schultz JL. Sleep disturbances by disease type and stage in Huntington’s disease. Parkinsonism Relat Disord. 2021 Oct;91:13-18. doi: 10.1016/j.parkreldis.2021.08.011. Epub 2021 Aug 21.PMID: 34450461
• Panegyres PK, Chen HY. Alzheimer’s disease, Huntington’s disease and cancer. J Clin Neurosci. 2021 Nov;93:103-105. doi: 10.1016/j.jocn.2021.09.012. Epub 2021 Sep 20. PMID: 34656231
• Puig-Davi A, Martinez-Horta S, Sampedro F, Horta-Barba A, Perez-Perez J, Campolongo A, Izquierdo-Barrionuevo C, Pagonabarraga J, Gomez-Anson B, Kulisevsky J. Cognitive and Affective Empathy in Huntington’s Disease. J Huntingtons Dis. 2021;10(3):323-334. doi: 10.3233/JHD-210469. PMID: 34486985
• Ranganathan M, Kostyk SK, Allain DC, Race JA, Daley AM. Age of onset and behavioral manifestations in Huntington’s disease: An Enroll-HD cohort analysis. Clin Genet. 2021 Jan;99(1):133-142. doi: 10.1111/cge.13857. Epub 2020 Oct 16. PMID: 33020896
• Schultz JL, Saft C, Nopoulos PC. Association of CAG Repeat Length in the Huntington Gene With Cognitive Performance in Young Adults. Neurology. 2021 May 11;96(19):e2407-e2413. doi: 10.1212/WNL.0000000000011823. Epub 2021 Mar 10.PMID: 33692166
• Sprenger GP, Roos RAC, van Zwet E, Reijntjes RH, Achterberg WP, de Bot ST. The prevalence of pain in Huntington’s disease in a large worldwide cohort. Parkinsonism Relat Disord. 2021 Aug;89:73-78. doi: 10.1016/j.parkreldis.2021.06.015. Epub 2021 Jun 19. PMID: 34243026
• Symonds AL, Macerollo A, Foy K, Alusi SH, Davies R. Genetic and Environmental Contributors to Neurodegeneration: An Exploration of the Effects of Alcohol on Clinical Features of Huntington’s Disease Using the Enroll-HD Global Platform. Int J Environ Res Public Health. 2021 May 12;18(10):5113. doi: 10.3390/ijerph18105113. PMID: 34065918
• van der Zwaan KF, Jacobs M, van Zwet EW, Roos RAC, de Bot ST. Predictors of Working Capacity Changes Related to Huntington’s Disease: A Longitudinal Study. J Huntingtons Dis. 2021;10(2):269-276. doi: 10.3233/JHD-200446.PMID: 33523014
• EHDN remote Plenary Meeting (September 9-11, 2021): J Neurol Neurosurg Psychiatry 2021 92(Suppl 1)

• Eccles FJR, Craufurd D, Smith A, Davies R, Glenny K, Homberger M, Peeren S, Rogers D, Rose L, Skitt Z, Theed R, Simpson J. A feasibility investigation of mindfulness-based cognitive therapy for people with Huntington’s disease. Pilot Feasibility Stud. 2020 Jun 24;6:90. doi: 10.1186/s40814-020-00631-z. eCollection 2020. PMID: 32595978
• Fazio P, Fitzer-Attas CJ, Mrzljak L, Bronzova J, Nag S, Warner JH, Landwehrmeyer B, Al-Tawil N, Halldin C, Forsberg A, Ware J, Dilda V, Wood A, Sampaio C, Varrone A; PEARL-HD and LONGPDE10 study collaborators. PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington’s disease progression. Mov Disord. 2020 Jan 22. doi: 10.1002/mds.27963. [Epub ahead of print] PMID: 31967355
• Martinez-Horta S, Horta-Barba A, Perez-Perez J, Sampedro F, de Lucia N, De Michele G, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, Rodriguez N, Martinez-Descals A, Garcia-Ruiz P, Júlio F, Januário C, Delussi M, de Tommaso M, Noguera S, Ruiz-Idiago J, Sitek EJ, Nuzzi A, Pagonabarraga J, Kulisevsky J; Cognitive Phenotype Working Group of the European Huntington’s Disease Network. Utility of the Parkinson’s disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington’s disease. J Neurol. 2020 Feb 7. doi: 10.1007/s00415-020-09730-6. [Epub ahead of print] PMID: 32030521
• Mégret L, Nair SS, Dancourt J, Aaronson J, Rosinski J, Neri C. Combining feature selection and shape analysis uncovers precise rules for miRNA regulation in Huntington’s disease mice. BMC Bioinformatics. 2020 Feb 24;21(1):75. doi: 10.1186/s12859-020-3418-9. PMID: 32093602
• Mills JA, Long JD, Mohan A, Ware JJ, Sampaio C. Cognitive and Motor Norms for Huntington’s Disease. Arch Clin Neuropsychol. 2020 Aug 28;35(6):671-682. doi: 10.1093/arclin/acaa026. PMID: 32407458
• Rohiwal SS, Dvorakova N, Klima J, Vaskovicova M, Senigl F, Slouf M, Pavlova E, Stepanek P, Babuka D, Benes H, Ellederova Z, Stieger K. Polyethylenimine based magnetic nanoparticles mediated non-viral CRISPR/Cas9 system for genome editing. Sci Rep. 2020 Mar 12;10(1):4619. doi: 10.1038/s41598-020-61465-6. PMID: 32165679
• Spiers J, Smith JA, Ferrer-Duch M, Moldovan R, Roche J, MacLeod R. Evaluating a Genetic Counseling Narrative Group Session for People Who Have Tested Positive for the Huntington’s Disease Expansion: An Interpretative Phenomenolog-ical Analysis. J Genet Couns. 2020 Feb 19.  doi: 10.1002/jgc4.1229. Online ahead of print. PMID:  32077165 
• Steventon JJ, Rosser AE, Hart E, Murphy K. Hypertension, Antihypertensive Use and the Delayed-Onset of Huntington’s Disease. Mov Disord. 2020 Jun;35(6):937-946. doi: 10.1002/mds.27976. Epub 2020 Feb 4. PMID: 32017180
• Sun W, Zhou D, Warner JH, Langbehn DR, Hochhaus G, Wang Y. Huntington’s Disease Progression: A Population Modeling Approach to Characterization Using Clinical Rating Scales.  J Clin Pharmacol. 2020 May 16. doi: 10.1002/jcph.1598. Online ahead of print. PMID: 32416008
• Vernizzi L, Paiardi C, Licata G, Vitali T, Santarelli S, Raneli M, Manelli V, Rizzetto M, Gioria MR, Pasini ME, Grifoni D, Vanoni MA, Gellera C, Taroni F, Bellosta B. Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a Drosophila Model for Huntington’s Disease. Cells 2020 Jan 13;9(1):196. doi: 10.3390/cells9010196. PMID: 31941072
• Vuono R, Kouli A, Legault EM, Chagnon L, Allinson KS, La Spada A; REGISTRY Investigators of the European Huntington’s Disease Network, Biunno I, Barker RA, Drouin-Ouellet J. Association Between Toll-Like Receptor 4 (TLR4) and Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) Genetic Variants and Clinical Progression of Huntington’s Disease. Mov Disord. 2020 Mar;35(3):401-408. doi: 10.1002/mds.27911. Epub 2019 Nov 14 PMID: 31724242
• Witkowski G, Jachinska K, Stepniak I, Ziora-Jakutowicz K, Sienkiewicz-Jarosz H. Alterations in transcranial sonography among Huntington’s disease patients with psychiatric symptoms. J Neural Transm (Vienna). 2020 Apr 13. doi: 10.1007/s00702-020-02187-x. Online ahead of print. PMID: 32285254
• Zielonka D, Witkowski G, Puch EA, Lesniczak M, Mazur-Michalek I, Isalan M, Mielcarek M. Prevalence of Non-psychiatric Comorbidities in Pre-symptomatic and Symptomatic Huntington’s Disease Gene Carriers in Poland. Front Med (Lausanne). 2020 Mar 11;7:79. doi: 10.3389/fmed.2020.00079. eCollection 2020. PMID: 32219094

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• Quarrell OWJ, Nance MA, Nopoulos P, Reilmann R, Oosterloo M, Tabrizi SJ, Furby H, Saft C, Roos RAC, Squitieri F, Landwehrmeyer GB, Burgunder JM; Juvenile Huntington Disease Working Group of the European Huntington Disease Network. Defining paediatric Huntington disease: time to abandon the term Juvenile Huntington Disease? Mov Disord. 2019 Feb 20. doi: 10.1002/mds.27640. Epub ahead of print. PMID: 30788860
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• Scarabino D, Veneziano L, Peconi M, Frontali M, Mantuano E, Corbo RM. Leukocyte telomere shortening in Huntington’s disease. J Neurol Sci. 2019 Jan 15;396:25-29. doi: 10.1016/j.jns.2018.10.024. Epub 2018 Oct 28. PMID: 30396032

• Arnoux I, Willam M, Griesche N, Krummeich J, Watari H, Offermann N, Weber S, Narayan Dey P, Chen C, Monteiro O, Buettner S, Meyer K, Bano D, Radyushkin K, Langston R, Lambert JJ, Wanker E, Methner A, Krauss S, Schweiger S, Stroh A. Metformin reverses early cortical network dysfunction and behavior changes in Huntington’s disease. Elife. 2018 Sep 4;7. pii: e38744. doi: 10.7554/eLife.38744. PMID: 30179155
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• Barkhuizen M, Rodrigues FB, Anderson DG, Winkens B; REGISTRY Investigators of the European Huntington’s Disease Network, Wild EJ, Kramer BW, Gavilanes AWD. Perinatal insults and neurodevelopmental disorders may impact Huntington’s disease age of diagnosis. Parkinsonism Relat Disord. 2018 Oct;55:55-60. doi: 10.1016/j.parkreldis.2018.05.016. Epub 2018 May 18. PMID: 29804730
• Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. Population-specific genetic modification of Huntington’s disease in Venezuela. PLoS Genet. 2018 May 11;14(5):e1007274. doi: 10.1371/journal.pgen.1007274. eCollection 2018 May. PMID: 29750799
• Di Pardo A, Pepe G, Castaldo S, Marracino F, Capocci L, Amico E, Madonna M, Giova S, Jeong SK, Park BM, Park BD, Maglione V. Stimulation of Sphingosine Kinase 1 (SPHK1) Is Beneficial in a Huntington’s Disease Pre-clinical Model. Front Mol Neurosci. 2019 Apr 24;12:100. doi: 10.3389/fnmol.2019.00100. eCollection 2019. PMID: 31068790
• Duarte AI, Sjögren M, Santos MS, Oliveira CR, Moreira PI, Björkqvist M. Dual Therapy with Liraglutide and Ghrelin Promotes Brain and Peripheral Energy Metabolism in the R6/2 Mouse Model of Huntington’s Disease. Sci Rep. 2018 Jun 12;8(1):8961. doi: 10.1038/s41598-018-27121-w. PMID: 29895889
• van Duijn E, Vrijmoeth EM, Giltay EJ, Bernhard Landwehrmeyer G; REGISTRY investigators of the European Huntington’s Disease Network. Suicidal ideation and suicidal behavior according to the C-SSRS in a European cohort of Huntington’s disease gene expansion carriers. J Affect Disord. 2018 Mar 1;228:194-204. doi: 10.1016/j.jad.2017.11.074. Epub 2017 Nov 15. PMID: 29253686
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• Fusilli C, Migliore S, Mazza T, Consoli F, De Luca A, Barbagallo G, Ciammola A, Gatto EM, Cesarini M, Etcheverry JL, Parisi V, Al-Oraimi M, Al-Harrasi S, Al-Salmi Q, Marano M, Vonsattel JG, Sabatini U, Landwehrmeyer GB, Squitieri F. Biological and clinical manifestations of juvenile Huntington’s disease: a retrospective analysis. Lancet Neurol. 2018 Nov;17(11):986-993. doi: 10.1016/S1474-4422(18)30294-1. Epub 2018 Sep 19. PMID: 30243861
• Massey T, McAllister B, Jones L. Methods for Assessing DNA Repair and Repeat Expansion in Huntington’s Disease. Methods Mol Biol. 2018;1780:483-495. doi: 10.1007/978-1-4939-7825-0_22. PMID: 29856032
• McNulty P, Pilcher R, Ramesh R, Necuiniate R, Hughes A, Farewell D, Holmans P, Jones L; REGISTRY Investigators of the European Huntington’s Disease Network . Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study. J Huntingtons Dis. 2018;7(3):209-222. doi: 10.3233/JHD-170263. PMID: 30103338
• Sun Z, Li Y, Ghosh S, Cheng Y, Mohan A, Sampaio C, Hu J. A Data-Driven Method for Generating Robust Symptom Onset Indicators in Huntington’s Disease Registry Data. AMIA Annu Symp Proc. 2018 Apr 16;2017:1635-1644. eCollection 2017. PMID: 29854234
• Valcárcel-Ocete L, Fullaondo A, Alkorta-Aranburu G, García-Barcina M, Roos RAC, Hjermind LE, Saft C, Frontali M, Reilmann R, Rickards H; REGISTRY investigators of the European Huntington’s Disease Network (EHDN), Zubiaga AM, Aguirre A. Does arterial hypertension influence the onset of Huntington’s disease? PLoS One. 2018 May 23;13(5):e0197975. doi: 10.1371/journal.pone.0197975. eCollection 2018. PMID: 29791508
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• EHDN 10th Plenary Meeting (September 14-16, 2018): J Neurol Neurosurg Psychiatry 2018 89(Suppl 1)

• Baake V, Reijntjes RHAM, Dumas EM, Thompson JC; REGISTRY Investigators of the European Huntington’s Disease Network, Roos RAC. Cognitive decline in Huntington’s disease expansion gene carriers. Cortex. 2017 Aug 3;95:51-62. doi: 10.1016/j.cortex.2017.07.017. [Epub ahead of print] PMID: 28843844
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• Buck E, Zügel M, Schumann U, Merz T, Gumpp AM, Witting A, Steinacker JM, Landwehrmeyer GB, Weydt P, Calzia E, Lindenberg KS. High-resolution respirometry of fine-needle muscle biopsies in pre-manifest Huntington’s disease expansion mutation carriers shows normal mitochondrial respiratory function. PLoS One. 2017 Apr 13;12(4):e0175248. doi: 10.1371/journal.pone.0175248. eCollection 2017. PMID: 28406926
• Busse M, Quinn L, Drew C, Kelson M, Trubey R, McEwan K, Jones C, Townson J, Dawes H, Tudor-Edwards R, Rosser A, Hood K. Physical Activity Self-Management and Coaching Compared to Social Interaction in Huntington Disease: Results From the ENGAGE-HD Randomized, Controlled, Pilot Feasibility Trial.

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• Fritz NE, Busse M, Jones K, Khalil H, Quinn L; Members of the Physiotherapy Working Group of the European Huntingtonʼs Disease Network. A Classification System to Guide Physical Therapy Management in Huntington Disease: A Case Series. J Neurol Phys Ther. 2017 Jul;41(3):156-163. doi: 10.1097/NPT.0000000000000188. PMID: 28628549
• Gardiner SL, van Belzen MJ, Boogaard MW, van Roon-Mom WMC, Rozing MP, van Hemert AM, Smit JH, Beekman ATF, van Grootheest G, Schoevers RA, Oude Voshaar RC, Roos RAC, Comijs HC, Penninx BWJH, van der Mast RC, Aziz NA. Huntingtin gene repeat size variations affect risk of lifetime depression. Transl Psychiatry. 2017 Dec 11;7(12):1277. doi: 10.1038/s41398-017-0042-1. Review. PMID: 29225330
• Gilling M, Budtz-Jørgensen E, Boonen SE, Lildballe D, Bojesen A, Hertz JM, Sørensen SA. The Danish HD Registry (DHR) – a nationwide family registry of HD families in Denmark. Clin Genet. 2017 Sep;92(3):338-341. doi: 10.1111/cge.12984. Epub 2017 Mar 28. PMID: 28155235
• Jones L, Houlden H, Tabrizi SJ. DNA repair in the trinucleotide repeat disorders. Lancet Neurol. 2017 Jan;16(1):88-96. doi: 10.1016/S1474-4422(16)30350-7. Review. PMID: 27979358
• Jussi O.Sipilä PhD thesis:  Huntington’s disease in Finland. Epidemiologic, genetic and clinical studies. (2017-04-21)
• Lee JM, Chao MJ, Harold D, Abu Elneel K, Gillis T, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF. A modifier of Huntington’s disease onset at the MLH1 locus. Hum Mol Genet. 2017 Oct 1;26(19):3859-3867. doi: 10.1093/hmg/ddx286. PMID: 28934397
• Long JD, Langbehn DR, Tabrizi SJ, Landwehrmeyer BG, Paulsen JS, Warner J, Sampaio C. Validation of a prognostic index for Huntington’s disease. Mov Disord. 2017 Feb;32(2):256-263. doi: 10.1002/mds.26838. Epub 2016 Nov 28. PMID: 27892614
• Maltby J, Dale M, Underwood M, Simpson J and the REGISTRY investigators of the European Huntington’s Disease Network. Irritability in Huntington’s Disease: Factor Analysis of Snaith’s Irritability Scale.  Mov Dis Clinical Practice. 2017 May/June 4(3):342–348.
• Maurage P, Heeren A, Lahaye M, Jeanjean A, Guettat L, Verellen-Dumoulin C, Halkin S, Billieux J, Constant E. Attentional Impairments in Huntington’s Disease: A Specific Deficit for the Executive Conflict. Neuropsychology. 2017 May;31(4):424-436. doi: 10.1037/neu0000321. Epub 2017 Feb 27. PMID: 28240935
• Moss DJH, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S; TRACK-HD investigators; REGISTRY investigators, Holmans P, Jones L, Tabrizi SJ. Identification of genetic variants associated with Huntington’s disease progression: a genome-wide association study. Lancet Neurol. 2017 Sep;16(9):701-711. doi: 10.1016/S1474-4422(17)30161-8. Epub 2017 Jun 20. PMID: 28642124
• Orth M, Bronzova J, Tritsch C, Dorsey ER, Ferreira JJ, Gemperli A and the EHDN REGISTRY and HSG COHORT Investigators. Comparison of Huntington’s Disease in Europe and North America. Mov Dis Clinical Practice. 2017 May/June 4(3):358-367.
• Reynolds RH, Petersen MH, Willert CW, Heinrich M, Nymann N, Dall M, Treebak JT, Björkqvist M, Silahtaroglu A, Hasholt L, Nørremølle A. Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington’s disease model. Mol Cell Neurosci. 2017 Dec 28;88:118-129. doi: 10.1016/j.mcn.2017.12.009. [Epub ahead of print] PMID: 29289683
• Rodrigues FB, Abreu D, Damásio J, Gonçalves N, Correia Guedes L, Coelho M, Ferreira JJ, REGISTRY Investigators of the European Huntington’s Disease Network. Survival, Mortality, Causes and Places of Death in a European Huntington’s Disease Prospective Cohort. Mov Dis Clinical Practice. 2017 September/October 4(5):737-742.
• Ruiz-Idiago JM, Floriach M, Mareca C, Salvador R, López-Sendón JL, Mañanés V, Cubo E, Mariscal N, Muñoz E, Santacruz P, Noguera MF, Vivancos L, Roy P, Pomarol-Clotet E, Sarró S; Spanish Huntington Disease Network. Spanish Validation of the Problem Behaviors Assessment-Short (PBA-s) for Huntington’s Disease. J Neuropsychiatry Clin Neurosci. 2017 Winter;29(1):31-38. doi: 10.1176/appi.neuropsych.16020025. Epub 2016 Jul 15. PMID: 27417071
• Sjögren M, Duarte AI, McCourt AC, Shcherbina L, Wierup N, Björkqvist M. Ghrelin rescues skeletal muscle catabolic profile in the R6/2 mouse model of Huntington’s disease. Sci Rep. 2017 Oct 24;7(1):13896. doi: 10.1038/s41598-017-13713-5. PMID: 29066728
• Stuitje G, van Belzen MJ, Gardiner SL, van Roon-Mom WMC, Boogaard MW; REGISTRY Investigators of the European Huntington Disease Network, Tabrizi SJ, Roos RAC, Aziz NA. Age of onset in Huntington’s disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes. Brain. 2017 Jul 1;140(7):e42. doi: 10.1093/brain/awx122. PMID: 28549075
• Suelves N, Kirkham-McCarthy L, Lahue RS, Ginés S. A selective inhibitor of histone deacetylase 3 prevents cognitive deficits and suppresses striatal CAG repeat expansions in Huntington’s disease mice. Sci Rep. 2017, 7:6082. doi:10.1038/s41598-017-05125-2. PMID: 28729730
• Underwood M, Bonas S, Dale M, REGISTRY Investigators of the European Huntington’s Disease Network. Huntington’s Disease: Prevalence and Psychological Indicators of Pain. Mov Dis Clin Pract 2017 March/April 4(2):198-204.

• Baake V, Hart EP, Bos R, Roos RA. Participants at the Leiden Site of the REGISTRY Study: A Demographic Approach. J Huntingtons Dis. 2016 Mar 15; 5(1):83-90. doi: 10.3233/JHD-150157. PMID: 27003663
• Braisch U, Hay B, Muche R, Rothenbacher D, Landwehrmeyer GB, Long JD, Orth M; REGISTRY Investigators of the European Huntington’s Disease Network and COHORT Investigators of the Huntington Study Group. Identification of extreme motor phenotypes in Huntington’s disease. Am J Med Genet B Neuropsychiatr Genet. 2017 Apr;174(3):283-294. doi: 10.1002/ajmg.b.32514. Epub 2016 Nov 21. PMID: 27868347
• Bettencourt C, Hensman-Moss D, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P; SPATAX Network, Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L. DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. Ann Neurol. 2016 Jun;79(6):983-90. doi: 10.1002/ana.24656. Epub 2016 May 6. PMID: 27044000
• Cubo E, Rivadeneyra J, Mariscal N, Martinez A, Armesto D, Camara RJ and on behalf of the Spanish Members of the European Huntington’s Disease Registry. Factors Associated with Low Body Mass Index in Huntington’s Disease: A Spanish Multicenter Study of the European Huntington’s Disease Registry. Mov Dis Clinical Practice. 2016 September/October 3(5):452-459.
• Cubo E, Ramos-Arroyo MA, Martinez-Horta S, Martínez-Descalls A, Calvo S, Gil-Polo C; European HD Network. Clinical manifestations of intermediate allele carriers in Huntington disease. Neurology. 2016 Aug 9;87(6):571-8. doi: 10.1212/WNL.0000000000002944. Epub 2016 Jul 8. PMID: 27402890
• Dale M, Maltby J, Shimozaki S, Cramp R, Rickards H; REGISTRY Investigators of the European Huntington’s Disease Network. Disease stage, but not sex, predicts depression and psychological distress in Huntington’s disease: A European population study. J Psychosom Res. 2016 Jan; 80:17-22. doi: 10.1016/j.jpsychores.2015.11.003. Epub 2015 Nov 12. PMID: 26721543
• Jacobs M, Hart EP, van Zwet EW, Bentivoglio AR, Burgunder JM, Craufurd D, Reilmann R, Saft C, Roos RA; REGISTRY investigators of the European Huntington’s Disease Network. Progression of motor subtypes in Huntington’s disease: a 6-year follow-up study. J Neurol. 2016 Oct;263(10):2080-5. doi: 10.1007/s00415-016-8233-x. Epub 2016 Jul 19. PMID: 27435968
• Jones C, Busse M, Quinn L, Dawes H, Drew C, Kelson M, Hood K, Rosser A, Edwards RT. The societal cost of Huntington’s disease: are we underestimating the burden? Eur J Neurol. 2016 Oct;23(10):1588-90. doi: 10.1111/ene.13107. Epub 2016 Jul 27. PMID: 27461550
• Jones U, Busse M, Enright S, Rosser AE. Respiratory decline is integral to disease progression in Huntington’s disease. Eur Respir J. 2016 Aug;48(2):585-8. doi: 10.1183/13993003.02215-2015. PMID: 27338194
• Keum JW, Shin A, Gillis T, Mysore JS, Abu Elneel K, Lucente D, Hadzi T, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. Am J Hum Genet. 2016 2016 Feb 4;98(2):287-98. doi: 10.1016/j.ajhg.2015.12.018. PMID: 26849111
• Maltby J, Dale M, Underwood M, Rickards H, Callaghan J; and REGISTRY Investigators of the European Huntington’s Disease Network. Exploring the Structural Relationship Between Interviewer and Self-Rated Affective Symptoms in Huntington’s Disease. J Neuropsychiatry Clin Neurosci. 2016 Summer;28(3):236-8. doi: 10.1176/appi.neuropsych.15090237. Epub 2016 Feb 22. PMID: 26900736
• Martinez-Horta S, Perez-Perez J, van Duijn E, Fernandez-Bobadilla R, Carceller M, Pagonabarraga J, Pascual-Sedano B, Campolongo A, Ruiz-Idiago J, Sampedro F, Landwehrmeyer GB; Spanish REGISTRY investigators of the European Huntington’s Disease Network, Kulisevsky J. Neuropsychiatric symptoms are very common in premanifest and early stage Huntington’s Disease. Parkinsonism Relat Disord. 2016 Apr;25:58-64. doi: 10.1016/j.parkreldis.2016.02.008. PMID: 26898966
• Maurage P, Lahaye M, Grynberg D, Jeanjean A, Guettat L, Verellen-Dumoulin C, Halkin S, Heeren A, Billieux J, Constant E. Dissociating emotional and cognitive empathy in pre-clinical and clinical Huntington’s disease. Psychiatry Res. 2016 Mar 30;237:103-8. doi: 10.1016/j.psychres.2016.01.070. PMID: 26869362
• Naseri NN, Bonica J, Xu H, Park LC, Arjomand J, Chen Z, Gibson GE. Novel Metabolic Abnormalities in the Tricarboxylic Acid Cycle in Peripheral Cells From Huntington’s Disease Patients. PLoS One 2016 Sep 9 ;11(9):e0160384. doi: 10.1371. PMID: 27611087
• Quinn L, Hamana K, Kelson M, Dawes H, Collett J, Townson J, Roos R, van der Plas AA, Reilmann R, Frich JC, Rickards H, Rosser A, Busse M. A randomized, controlled trial of a multi-modal exercise intervention in Huntington’s disease. Parkinsonism Relat Disord. 2016 Oct;31:46-52. doi: 10.1016/j.parkreldis.2016.06.023. Epub 2016 Jul 1. PMID: 27423921
• Reynolds Regina Master Thesis: Changes in the miR-34a – SIRT1 axis in Huntington’s disease
• Rivadeneyra J, Cubo E, Gil C, Calvo S, Mariscal N, Martínez A. Factors associated with Mediterranean diet adherence in Huntington’s disease. Clin Nutr ESPEN. 2016 Apr;12:e7-e13. doi: 10.1016/j.clnesp.2016.01.001. Epub 2016 Mar 5. PMID: 28531758
• Warner JH, Sampaio C. Modeling Variability in the Progression of Huntington’s Disease A Novel Modeling Approach Applied to Structural Imaging Markers from TRACK-HD. CPT Pharmacometrics Syst Pharmacol. 2016 Aug;5(8):437-45. doi: 10.1002/psp4.12097. PMID: 27481337
• EHDN 9th Plenary Meeting (September 16-18, 2016): J Neurol Neurosurg Psychiatry 2016 87(Suppl 1)

• Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium. Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease. Cell. 2015 Jul 30; 162(3):516-26. doi: 10.1016/j.cell.2015.07.003. PMID: 26232222
• Achour M, Le Gras S, Keime C, Parmentier F, Lejeune FX, Boutillier AL, Néri C, Davidson I, Merienne K. Neuronal identity genes regulated by super-enhancers are preferentially down-regulated in the striatum of Huntington’s disease mice. Hum Mol Genet. 2015 Jun 15;24(12):3481-96. doi: 10.1093/hmg/ddv099. Epub 2015 Mar 17. PMID: 25784504
• Bečanović K, Nørremølle A, Neal SJ, Kay C, Collins JA, Arenillas D, Lilja T, Gaudenzi G, Manoharan S, Doty CN, Beck J, Lahiri N, Portales-Casamar E, Warby SC, Connolly C, De Souza RA; REGISTRY Investigators of the European Huntington’s Disease Network, Tabrizi SJ, Hermanson O, Langbehn DR, Hayden MR, Wasserman WW, Leavitt BR. A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease. Nat Neurosci 2015 Jun; 18(6):807-16. doi: 10.1038/nn.4014. Epub 2015 May 4. PMID: 25938884
• Correia K, Harold D, Kim KH, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington’s Disease. J Huntingtons Dis 2015; 4(3):279-84. doi: 10.3233/JHD-150169. PMID: 26444025
• Cubo E, Rivadeneyra J, Armesto D, Mariscal N, Martinez A, Camara RJ; Spanish members of the European Huntington Disease Network. Relationship between Nutritional Status and the Severity of Huntington’s Disease. A Spanish Multicenter Dietary Intake Study. J Huntingtons Dis 2015; 4(1):78-85. PMID: 26333259
• Dale M, Maltby J, Martucci R, Shimozaki S; REGISTRY investigators of the European Huntington’s Disease Network. Factor analysis of the hospital anxiety and depression scale among a Huntington’s disease population. Mov Disord. 2015 Dec; 30(14):1954-60. doi: 10.1002/mds.26419. Epub 2015 Oct 7. PMID: 26443751
• Eddy CM, Rickards HE. Theory of mind can be impaired prior to motor onset in Huntington’s disease. Neuropsychology. 2015 Sep;29(5):792-8. doi: 10.1037/neu0000190. Epub 2015 Feb 9. PMID: 25664466
• Eddy CM, Rickards HE. Interaction without intent: the shape of the social world in Huntington’s disease. Soc Cogn Affect Neurosci. 2015 Sep;10(9):1228-35. doi: 10.1093/scan/nsv012. Epub 2015 Feb 12. PMID: 25680992
• Eddy CM, Rickards HE. Cognitive deficits predict poorer functional capacity in Huntington’s disease: but what is being measured? Neuropsychology. 2015 Mar;29(2):268-73. doi: 10.1037/neu0000134. Epub 2014 Aug 11. PMID: 25110931
• McCourt AC, O’Donovan KL, Ekblad E, Sand E, Craufurd D, Rosser A, Sanders D, Stoy N, Rickards H, Wierup N, Bates GP, Björkqvist M, Quarrell O. Characterization of Gastric Mucosa Biopsies Reveals Alterations in Huntington’s Disease. PLoS Curr. 2015 Jun 26;7. pii: ecurrents.hd.858b4cc7f235df068387e9c20c436a79. doi: 10.1371/currents.hd.858b4cc7f235df068387e9c20c436a79. PMID: 26581667
• Mort M, Carlisle FA, Waite AJ, Elliston L, Allen ND, Jones L, Hughes AC. Huntingtin Exists as Multiple Splice Forms in Human Brain. J Huntingtons Dis. 2015;4(2):161-71. doi: 10.3233/JHD-150151. PMID: 26397897
• Steventon JJ, Harrison DJ, Trueman RC, Rosser AE, Jones DK, Brooks SP. In Vivo MRI Evidence that Neuropathology is Attenuated by Cognitive Enrichment in the Yac128 Huntington’s Disease Mouse Model. J Huntingtons Dis. 2015;4(2):149-60. doi: 10.3233/JHD-150147. PMID: 26397896
• Tedroff J, Waters S, Barker RA, Roos R, Squitieri F; EHDN Registry Study Group. Antidopaminergic Medication is Associated with More Rapidly Progressive Huntington’s Disease. J Huntingtons Dis 2015; 4(2):131-40. doi: 10.3233/JHD-150143. PMID: 26397894
• Valcárcel-Ocete L, Alkorta-Aranburu G, Iriondo M, Fullaondo A, García-Barcina M, Fernández-García JM, Lezcano-García E, Losada-Domingo JM, Ruiz-Ojeda J, Álvarez de Arcaya A, Pérez-Ramos JM, Roos RA, Nielsen JE, Saft C; REGISTRY investigators of the European Huntington’s Disease Network, Zubiaga AM, Aguirre A. Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene. PLoS One. 2015 Jul 6; 10(7):e0131573. doi: 10.1371/journal.pone.0131573. eCollection 2015. PMID: 26148071
• Vuono R, Winder-Rhodes S, de Silva R, Cisbani G, Drouin-Ouellet J; REGISTRY Investigators of the European Huntington’s Disease Network, Spillantini MG, Cicchetti F, Barker RA. The role of tau in the pathological process and clinical expression of Huntington’s disease. Brain. 2015 Jul; 138(Pt 7):1907-18. doi: 10.1093/brain/awv107. Epub 2015 May 6. PMID: 25953777
• Wojtecki L, Groiss SJ, Ferrea S, Elben S, Hartmann CJ, Dunnett SB, Rosser A, Saft C, Südmeyer M, Ohmann C, Schnitzler A, Vesper J; Surgical Approaches Working Group of the European Huntington’s Disease Network (EHDN). A Prospective Pilot Trial for Pallidal Deep Brain Stimulation in Huntington’s Disease. Front Neurol. 2015 Aug 18;6:177. doi: 10.3389/fneur.2015.00177. eCollection 2015. PMID: 26347707
• Zügel M, Weydt P. Sports and Physical Activity in Patients Suffering from Rare Neurodegenerative Diseases: How Much is too Much, how Much is too Little? Deutsche Zeitschrift für Sportmedizin. 2015; 66(11):300-7.

• Busse M, Quinn L, Khalil H, McEwan K. Optimising mobility outcome measures in Huntington’s disease. J Huntingtons Dis. 2014;3(2):175-88. doi: 10.3233/JHD-140091. PMID: 25062860
• Esther Cubo, Christopher G. Goetz, Glenn T. Stebbins, Nancy R. LaPelle, Barbara C. Tilley, Lu Wang, Sheng Luo and on behalf of the Spanish UDysRS Program Members. Independent Spanish Validation of the Unified Dyskinesia Rating Scale. Movement Disorders – Clinical Practice. 2014 Sep; 1(3):213-8. doi: 10.1002/mdc3.12065.
• van Duijn E, Craufurd D, Hubers AA, Giltay EJ, Bonelli R, Rickards H, Anderson KE, van Walsem MR, van der Mast RC, Orth M, Landwehrmeyer GB; the European Huntington’s Disease Network Behavioural Phenotype Working Group. Neuropsychiatric symptoms in a European Huntington’s disease cohort (REGISTRY). J Neurol Neurosurg Psychiatry. 2014 Dec; 85(12):1411-18. doi: 10.1136/jnnp-2013-307343. Epub 2014 May 14. PMID: 24828898
• Eddy CM, Sira Mahalingappa S, Rickards HE. Putting things into perspective: the nature and impact of theory of mind impairment in Huntington’s disease. Eur Arch Psychiatry Clin Neurosci. 2014 Dec;264(8):697-705. doi: 10.1007/s00406-014-0498-4. Epub 2014 Mar 20. PMID: 24647535
• Lindenberg KS, Weydt P, Müller HP, Bornstedt A, Ludolph AC, Landwehrmeyer GB, Rottbauer W, Kassubek J, Rasche V. Two-point magnitude MRI for rapid mapping of brown adipose tissue and its application to the R6/2 mouse model of Huntington disease. PLoS One. 2014 Aug 21; 9(8):e105556. doi: 10.1371/journal.pone.0105556. eCollection 2014.PMID: 25144457
• Magnusson-Lind A, Davidsson M, Silajdžić E, Hansen C, McCourt AC, Tabrizi SJ, Björkqvist M.Skeletal muscle atrophy in R6/2 mice – altered circulating skeletal muscle markers and gene expression profile changes. J Huntingtons Dis. 2014;3(1):13-24. doi: 10.3233/JHD-130075. PMID: 25062762
• Quinn L, Debono K, Dawes H, Rosser AE, Nemeth AH, Rickards H, Tabrizi SJ, Quarrell O, Trender-Gerhard I, Kelson J, Townson J, Busse M; members of the TRAIN-HD project group. Task-specific training in Huntington disease: a randomized controlled feasibility trial. Phys Ther. 2014 Nov;94(11):1555-68. doi: 10.2522/ptj.20140123. Epub 2014 Jul 10. PMID: 25012999
• Reilmann R, Squitieri F, Priller J, Saft C, Mariotti C, Suessmuth SD, Nemeth AH, Tabrizi SJ, Quarrell O, Craufurd D, Rickards H, Rosser A, Borje D, Michaela T, Angieszka S, Fischer DF, Macdonald D, Munoz-Sanjuan I, Pacifici R, Frost C, Farmer R, Landwehrmeyer B and Westerberg G. Safety and Tolerability of Selisistat for the Treatment of Huntington’s Disease: Results from a Randomized, Double-Blind, Placebo-Controlled Phase II Trial (S47.004). Neurology April 8, 2014 vol. 82 no. 10 Supplement S47.004.
• Ross CA, Aylward EH, Wild EJ, Langbehn DR, Long JD, Warner JH, Scahill RI, Leavitt BR, Stout JC, Paulsen JS, Reilmann R, Unschuld PG, Wexler A, Margolis RL, Tabrizi SJ. Huntington disease: natural history, biomarkers and prospects for therapeutics. Nat Rev Neurol. 2014 Apr; 10(4):204-16. doi: 10.1038/nrneurol.2014.24. Epub 2014 Mar 11. PMID: 24614516
• Tourette C, Farina F, Vazquez-Manrique RP, Orfila AM, Voisin J, Hernandez S, Offner N, Parker JA, Menet S, Kim J, Lyu J, Choi SH, Cormier K, Edgerly CK, Bordiuk OL, Smith K, Louise A, Halford M, Stacker S, Vert JP, Ferrante RJ, Lu W, Neri C. The Wnt receptor Ryk reduces neuronal and cell survival capacity by repressing FOXO activity during the early phases of mutant huntingtin pathogenicity. PLoS Biol. 2014 Jun 24;12(6):e1001895. doi: 10.1371/journal.pbio.1001895. eCollection 2014 Jun. PMID: 24960609
• Vittori A, Breda C, Repici M, Orth M, Roos RA, Outeiro TF, Giorgini F, Hollox EJ; REGISTRY investigators of the European Huntington’s Disease Network. Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington’s disease. Hum Mol Genet 2014 Jun 15; 23(12):3129-37. doi: 10.1093/hmg/ddu022. Epub 2014 Jan 22. PMID: 24452335
• Weydt P, Soyal SM, Landwehrmeyer GB, Patsch W; European Huntington Disease Network. A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort. BMC Neurol. 2014 Jan 2; 14:1. doi: 10.1186/1471-2377-14-1. PMID: 24383721
• EHDN 8th Plenary Meeting (September 19-21, 2014): J Neurol Neurosurg Psychiatry 2014 85(Suppl 1)

• HORIZON Investigators of the Huntington Study Group and European Huntington’s Disease Network. A randomized, double-blind, placebo-controlled study of latrepirdine in patients with mild to moderate Huntington disease. JAMA Neurol. 2013 Jan; 70(1):25-33. doi: 10.1001/2013.jamaneurol.382. PMID: 23108692
• Bohlen S, Ekwall C, Hellström K, Vesterlin H, Björnefur M, Wiklund L, Reilmann R. Physical therapy in Huntington’s disease-toward objective assessments? Eur J Neurol. 2013 Feb;20(2):389-93. doi: 10.1111/j.1468-1331.2012.03760.x. Epub 2012 Jun 4. PMID: 22672573
• Delmaire C, Dumas EM, Sharman MA, van den Bogaard SJ, Valabregue R, Jauffret C, Justo D, Reilmann R, Stout JC, Craufurd D, Tabrizi SJ, Roos RA, Durr A, Lehéricy S. The structural correlates of functional deficits in early huntington’s disease. Hum Brain Mapp. 2013 Sep;34(9):2141-53. doi: 10.1002/hbm.22055. Epub 2012 Mar 22. PMID: 22438242
• Eatough V, Santini H, Eiser C, Goller ML, Krysa W, de Nicola ‘, Paduanello M, Petrollini M, Rakowicz M, Squitieri F, Tibben A, Weille KL, Landwehrmeyer B, Quarrell O, Smith JA. The personal experience of parenting a child with juvenile Huntington’s disease: perceptions across Europe. Eur J Hum Genet. 2013 Oct; 21(10):1042-8. doi: 10.1038/ejhg.2013.15. Epub 2013 Feb 27. PMID: 23443023
• Eddy CM, Rickards HE. Impact of cognitive and behavioural changes on quality of life in Huntington’s disease. Basal Ganglia 2013 Jul; 3(2):123-6.
• Harrison DJ, Busse M, Openshaw R, Rosser AE, Dunnett SB, Brooks SP. Exercise attenuates neuropathology and has greater benefit on cognitive than motor deficits in the R6/1 Huntington’s disease mouse model. Exp Neurol. 2013 Oct;248:457-69. doi: 10.1016/j.expneurol.2013.07.014. Epub 2013 Jul 30. PMID: 23911978
• Hart EP, Marinus J, Burgunder JM, Bentivoglio AR, Craufurd D, Reilmann R, Saft C, Roos RA; REGISTRY Investigators of the European Huntington’s Disease Network. Better global and cognitive functioning in choreatic versus hypokinetic-rigid Huntington’s disease. Mov Disord. 2013 Jul; 28(8):1142-5. doi: 10.1002/mds.25422. Epub 2013 Mar 14. PMID: 23495076
• Hubers AA, van Duijn E, Roos RA, Craufurd D, Rickards H, Bernhard Landwehrmeyer G, van der Mast RC, Giltay EJ; The REGISTRY investigators of the European Huntington’s Disease Network. Suicidal ideation in a European Huntington’s disease population. J Affect Disord. 2013 Oct; 151(1):248-58. doi: 10.1016/j.jad.2013.06.001. Epub 2013 Jul 20. PMID: 23876196
• Krzysztoń-Russjan J, Zielonka D, Jackiewicz J, Kuśmirek S, Bubko I, Klimberg A, Marcinkowski JT, Anuszewska EL. A study of molecular changes relating to energy metabolism and cellular stress in people with Huntington’s disease: looking for biomarkers. J Bioenerg Biomembr. 2013 Feb;45(1-2):71-85. doi: 10.1007/s10863-012-9479-3. Epub 2012 Oct 16. PMID: 23070563
• Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network, Nguyen HP. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. PLoS One. 2013 Jul 22; 8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013. PMID: 23894380
• Parmentier F, Lejeune FX, Neri C. Pathways to decoding the clinical potential of stress response FOXO-interaction networks for Huntington’s disease: of gene prioritization and context dependence. Front Aging Neurosci. 2013 Jun 13; 5:22. doi: 10.3389/fnagi.2013.00022. eCollection 2013. PMID: 23781200
• Quinn L, Khalil H, Dawes H, Fritz NE, Kegelmeyer D, Kloos AD, Gillard JW, Busse M; Outcome Measures Subgroup of the European Huntington’s Disease Network. Reliability and minimal detectable change of physical performance measures in individuals with pre-manifest and manifest Huntington disease. Phys Ther. 2013 Jul;93(7):942-56. doi: 10.2522/ptj.20130032. Epub 2013 Mar 21. PMID: 23520147
• Simonin C, Duru C, Salleron J, Hincker P, Charles P, Delval A, Youssov K, Burnouf S, Azulay JP, Verny C, Scherer C, Tranchant C, Goizet C, Debruxelles S, Defebvre L, Sablonnière B, Romon-Rousseaux M, Buée L, Destée A, Godefroy O, Dürr A, Landwehrmeyer B; REGISTRY Study of the European Huntington’s Disease Network, Bachoud-Levi AC, Richard F, Blum D, Krystkowiak P; Huntington French Speaking Network. Association between caffeine intake and age at onset in Huntington’s disease. Neurobiol Dis. 2013 Oct;58:179-82. doi: 10.1016/j.nbd.2013.05.013. Epub 2013 May 31. PMID: 23732677
• Vittori A, Orth M, Roos RA, Outeiro TF, Giorgini F, Hollox EJ; REGISTRY investigators of the European Huntington’s Disease Network. β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington’s Disease. J Huntingt Dis 2013 Mar 27; 2(1):107-24. doi: 10.3233/JHD-130002. PMID: 25057107
• Youssov K, Dolbeau G, Maison P, Boissé MF, Cleret de Langavant L, Roos RA, Bachoud-Lévi AC. Unified Huntington’s disease rating scale for advanced patients: validation and follow-up study. Mov Disord. 2013 Oct;28(12):1717-23. doi: 10.1002/mds.25654. PMID: 24166899
• Zielonka D, Marinus J, Roos RA, De Michele G, Di Donato S, Putter H, Marcinkowski J, Squitieri F, Bentivoglio AR, Landwehrmeyer GB. The influence of gender on phenotype and disease progression in patients with Huntington’s disease. Parkinsonism Relat Disord. 2013 Feb; 19(2):192-7. doi: 10.1016/j.parkreldis.2012.09.012. Epub 2012 Oct 25. PMID: 23102616

• Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Landwehrmeyer GB; Registry Study of the European Huntington’s Disease Network, Shoulson I; Huntington Study Group COHORT project, Myers RH, MacDonald ME, Gusella JF. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington’s disease. Biochem Biophys Res Commun. 2012 Aug 3; 424(3):404-8. Epub 2012 Jul 3. PMID: 22771793
• Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG), Landwehrmeyer GB; REGISTRY study of the European Huntington’s Disease Network, Myers RH; HD-MAPS Study Group, MacDonald ME, Gusella JF; COHORT study of the HSG. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Mar 6; 78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. PMID: 22323755
• Lejeune FX, Mesrob L, Parmentier F, Bicep C, Vazquez-Manrique RP, Parker JA, Vert JP, Tourette C, Neri C. Large-scale functional RNAi screen in C. elegans identifies genes that regulate the dysfunction of mutant polyglutamine neurons. BMC Genomics. 2012 Mar 13;13:91. doi: 10.1186/1471-2164-13-91. PMID: 22413862
• Quarrell OW, Handley O, O’Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Discrepancies in reporting the CAG repeat lengths for Huntington’s disease. Eur J Hum Genet. 2012 Jan; 20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. PMID: 21811303
• Rinaldi C, Salvatore E, Giordano I, De Matteis S, Tucci T, Cinzia VR, Rossi F, Castaldo I, Morra VB, Di Maio L, Filla A, De Michele G. Predictors of survival in a Huntington’s disease population from southern Italy. Can J Neurol Sci. 2012 Jan;39(1):48-51. PMID: 22384495
• Robertson L, Santini H, O’Donovan KL, Squitieri F, Barker RA, Rakowicz M, Landwehrmeyer GB, Quarrell O. Current Pharmacological Management in Juvenile Huntington’s Disease. PLoS Curr 2012 Feb 15; 4:RRN1304. PMID: 22474619
• Soyal SM, Felder TK, Auer S, Hahne P, Oberkofler H, Witting A, Paulmichl M, Landwehrmeyer GB, Weydt P, Patsch W; European Huntington Disease Network. A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset. Hum Mol Genet. 2012 Aug 1; 21(15):3461-73. doi: 10.1093/hmg/dds177. Epub 2012 May 15. PMID: 22589246
• EHDN 7th Plenary Meeting (September 14-16, 2012): J Neurol Neurosurg Psychiatry 83(Suppl 1)

• Busse M, Al-Madfai DH, Kenkre J, Landwehrmeyer GB, Bentivoglio A, Rosser A; European Huntington’s Disease Network. Utilisation of Healthcare and Associated Services in Huntington’s disease: a data mining study. PLoS Curr. 2011 Jan 21; 3:RRN1206. doi: 10.1371/currents.RRN1206. PMID: 21304753
• López-Sendón JL, Royuela A, Trigo P, Orth M, Lange H, Reilmann R, Keylock J, Rickards H, Piacentini S, Squitieri F, Landwehrmeyer B, Witjes-Ane MN, Jurgens CK, Roos RA, Abraira V, de Yébenes JG; European HD Network. What is the impact of education on Huntington’s disease? Mov Disord. 2011 Jul; 26(8):1489-95. doi: 10.1002/mds.23385. Epub 2011 Mar 22. PMID: 21432905
• Orth M; European Huntington’s Disease Network, Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB. Observing Huntington’s disease: the European Huntington’s Disease Network’s REGISTRY. J Neurol Neurosurg Psychiatry. 2011 Dec; 82(12):1409-12. doi: 10.1136/jnnp.2010.209668. Epub 2010 Nov 19. PMID: 21097549
• Orth M, Schwenke C. Age-at-onset in Huntington disease. PLoS Curr. 2011 Jul 29; 3:RRN1258. doi: 10.1371/currents.RRN1258. PMID: 22453877
• Reilmann R, Bohlen S, Kirsten F, Ringelstein EB, Lange HW. Assessment of involuntary choreatic movements in Huntington’s disease-toward objective and quantitative measures. Mov Disord. 2011 Oct;26(12):2267-73. doi: 10.1002/mds.23816. Epub 2011 Jun 9. PMID: 21661053
• Rickards H, De Souza J, Crooks J, van Walsem MR, van Duijn E, Landwehrmeyer B, Squitieri F, Simpson SA; European Huntington’s Disease Network. Discriminant analysis of Beck Depression Inventory and Hamilton Rating Scale for Depression in Huntington’s disease. J Neuropsychiatry Clin Neurosci. 2011 Fall; 23(4):399-402. doi: 10.1176/appi.neuropsych.23.4.399. PMID: 22231310
• Rickards H, De Souza J, van Walsem M, van Duijn E, Simpson SA, Squitieri F, Landwehrmeyer B; European Huntington’s Disease Network. Factor analysis of behavioural symptoms in Huntington’s disease. J Neurol Neurosurg Psychiatry. 2011 Apr; 82(4):411-2. doi: 10.1136/jnnp.2009.181149. Epub 2010 Apr 14. PMID: 20392980
• Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network, Arning L. NMDA receptor gene variations as modifiers in Huntington disease: a replication study. PLoS Curr. 2011 Oct 4; 3:RRN1247. doi: 10.1371/currents.RRN1247. PMID: 21989477
• Vaccarino AL, Anderson K, Borowsky B, Duff K, Giuliano J, Guttman M, Ho AK, Orth M, Paulsen JS, Sills T, van Kammen DP, Evans KR; PREDICT-HD and REGISTRY Investigators Coordinators. An item response analysis of the motor and behavioral subscales of the unified Huntington’s disease rating scale in huntington disease gene expansion carriers. Mov Disord. 2011 Apr; 26(5):877-84. doi: 10.1002/mds.23574. Epub 2011 Mar 2. PMID: 21370269

• Henley SM, Ridgway GR, Scahill RI, Klöppel S, Tabrizi SJ, Fox NC, Kassubek J; EHDN Imaging Working Group. Pitfalls in the use of voxel-based morphometry as a biomarker: examples from huntington disease. AJNR Am J Neuroradiol. 2010 Apr; 31(4):711-9. doi: 10.3174/ajnr.A1939. Epub 2009 Dec 24. PMID: 20037137
• Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB; Investigators of the European Huntington’s Disease Network. Observing Huntington’s Disease: the European Huntington’s Disease Network’s REGISTRY. PLoS Curr. 2010 Sep 28 [revised 2011 Apr 13]; 2:RRN1184. PMID: 20890398
• De Souza J, Jones LA, Rickards H. Validation of self-report depression rating scales in Huntington’s disease. Mov Disord. 2010 Jan 15; 25(1):91-6. doi: 10.1002/mds.22837. PMID: 19908314
• EHDN 6th Plenary Meeting (September 2010): J Neurol Neurosurg Psychiatry 81(Suppl 1) 

• Aziz NA, Jurgens CK, Landwehrmeyer GB; EHDN Registry Study Group, van Roon-Mom WM, van Ommen GJ, Stijnen T, Roos RA. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Neurology. 2009 Oct 20; 73(16):1280-5. doi: 10.1212/WNL.0b013e3181bd1121. Epub 2009 Sep 23. Erratum in: Neurology. 2009 Nov 10;73(19):1608. Neurology. 2011 Jan 11;76(2):202. Ciarmielo, Andrea [corrected to Ciarmiello, Andrea]. PMID: 19776381
• Tabrizi SJ, Langbehn DR, Leavitt BR, Roos RA, Durr A, Craufurd D, Kennard C, Hicks SL, Fox NC, Scahill RI, Borowsky B, Tobin AJ, Rosas HD, Johnson H, Reilmann R, Landwehrmeyer B, Stout JC; TRACK-HD investigators. Biological and clinical manifestations of Huntington’s disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol. 2009 Sep; 8(9):791-801. doi: 10.1016/S1474-4422(09)70170-X. Epub 2009 Jul 29. PMID: 19646924
• Weydt P, Soyal SM, Gellera C, Didonato S, Weidinger C, Oberkofler H, Landwehrmeyer GB, Patsch W. The gene coding for PGC-1alpha modifies age at onset in Huntington’s Disease. Mol Neurodegener. 2009 Jan 8;4:3. doi: 10.1186/1750-1326-4-3. PMID: 19133136

• Klöppel S, Draganski B, Golding CV, Chu C, Nagy Z, Cook PA, Hicks SL, Kennard C, Alexander DC, Parker GJ, Tabrizi SJ, Frackowiak RS. White matter connections reflect changes in voluntary-guided saccades in pre-symptomatic Huntington’s disease. Brain. 2008 Jan;131(Pt 1):196-204. Epub 2007 Dec 3. PMID: 18056161
• Priller J, Ecker D, Landwehrmeyer B, Craufurd D. A Europe-wide assessment of current medication choices in Huntington’s disease. Mov Disord. 2008 Sep 15;23(12):1788. (Letters to the editor) doi: 10.1002/mds.22188. PMID: 18649399
• EHDN 5th Plenary Meeting (September 4-7, 2010): J Neurol Neurosurg Psychiatry 79(Suppl 1)