EHDN2021 Poster

Pathogenic mechanisms

A01 INVESTIGATING THE EFFECT OF DNA MAINTENANCE GENES IN DROSOPHILA MELANOGASTER MODEL…
A02 STRIATAL PROCEDURAL MEMORY-INDUCED TRANSCRIPTOME AND EPIGENOME ARE SEVERELY IMPAIR…
A03 PRECISE MACHINE-LEARNING SUGGESTS THAT NEURONAL DEATH IN HD IS MAINLY DRIVEN BY TH…
A04 CIRCHTT, A CIRCULAR RNA FROM THE HUNTINGTON’S DISEASE GENE LOCUS: FUNCTIONAL CHARA…
A05 EFFECT OF SMALL MOLECULE INHIBITORS ON THE AGGREGATION MECHANISM OF MUTANT HUNTING…
A06 TUNING THE STRESS RESPONSE PATHWAY TO RESPOND TO POLYQ AGGREGATION…
A07 HUNTINGTIN-DEPENDENT STABILITY OF HAP40 AND DECREASED HAP40 LEVELS IN HUNTINGTON’S…
A08 SYNAPTIC VESICLE RECYCLING IS DISRUPTED IN A MOUSE MODEL OF HUNTINGTON’S DISEASE…
A09 ADAM10 ACTIVITY AT THE HUNTINGTON’S DISEASE PRESYNAPSE…
A10 NAPDH OXIDASES (NOXS) EXOCYTOSIS AND ITS RELEVANCE IN HUNTINGTON’S DISEASE (HD) PA…
A11 HUNTINGTIN-MEDIATED AXONAL TRANSPORT REQUIRES ARGININE METHYLATION BY PRMT6…
A12 IDENTIFICATION OF THE KEY ROLE OF WHITE MATTER IN THE PATHOGENESIS OF HUNTINGTON’S…
A13 ABNORMAL SPINAL CORD MYELINATION DUE TO OLIGODENDROCYTE DYSFUNCTION IN A MODEL OF…
A14 RETINAL AND STRIATAL PROFILING OF THE R6/1 MOUSE MODEL OF HUNTINGTON’S DISEASE…
A15 HYPOTHALAMIC EXPRESSION OF HUNTINGTIN CAUSES DISTINCT METABOLIC CHANGES IN THE R6/…
A16 UNDERSTANDING THE ASSOCIATION BETWEEN MITOCHONDRIAL DNA COPY NUMBER AND TELOMERE L…
A17 TARGETING MITOPHAGY IN HUNTINGTON’S DISEASE PATIENTS’ FIBROBLASTS…
A18 CAN CUMULATION OF NEURODEGENERATIVE DISORDERS SIGNIFICANTLY PROMOTE MITOCHONDRIAL…
A19 HIGH-RESOLUTION RESPIROMETRY AS A TOOL TO ASSESS SKELETAL MUSCLE MITOCHONDRIAL STA…
A20 ASSESSMENT OF MUSCLE REGENERATION IN THE R6/2 MOUSE MODEL OF HUNTINGTON’S DISEASE…
A21 ASSESSMENT OF SATELLITE PROGENITOR CELL DIFFERENTIATION IN HD SKELETAL MUSCLE IN V…

Models for HD

B01 IN VITRO STUDY OF NEURODEVELOPMENT IN HUNTINGTON’S DISEASE…
B02 A NEW IN VIVO AND IN VITRO SINGLE-CELL ATLAS OF DEVELOPING MEDIUM SPINY NEURONS TO…
B03 NOVEL HD MOUSE MODELS ENABLING NEW PATHOGENIC MECHANISMS DISCOVERY…
B04 IDENTIFICATION OF THE NEURAL CORRELATES UNDERLYING CONFLICT RESOLUTION IN THE RODE…

Genetic modifiers

C01 THE EFFECT OF MISMATCH REPAIR PROTEINS IN A HUNTINGTON’S DISEASE CELLULAR MODEL…
C02 FAN1 CONTROLS CAG REPEAT EXPANSION IN HUNTINGTON’S DISEASE BY DUAL FUNCTIONS, MLH1…
C03 FAN1 PREVENTS CRISPR-CAS9 NICKASE-INDUCED CONTRACTIONS OF CAG/CTG REPEATS…
C04 PROTEIN CODING TANDEM REPEAT IN TCERG1 MODIFIES HUNTINGTON’S DISEASE ONSET…
C05 SAPAP3 SCAFFOLDING PROTEIN AS A REGULATOR OF MITOCHONDRIAL FUNCTION IN HUNTINGTON’…
C06 COMPARISON OF MODELS FOR ESTIMATING AGE AT MOTOR ONSET IN HD…
C07 GENETIC RISK FOR PSYCHIATRIC DISORDERS IS ASSOCIATED WITH PSYCHIATRIC AND COGNITIV…

Wet biomarkers

D01 TWO INDEPENDENT VALIDATIONS OF A MUTANT HUNTINGTIN PROTEIN (MHTT) ASSAY TO SUPPORT…
D02 CEREBROSPINAL FLUID AMYLOID BETA AND GLIAL FIBRILLARY ACIDIC PROTEIN CONCENTRATION…
D03 CIRCULAR RNAS AS POTENTIAL BIOMARKERS IN HUNTINGTON’S DISEASE PATHOGENESIS…
D04 BLOOD GLUCOSE AND INSULIN LEVELS FOLLOWING AN ORAL GLUCOSE CHALLENGE ARE PROMISING…

Imaging

E01 WIDESPREAD LOSS OF PRESYNAPTIC TERMINAL MARKER SV2A IN EARLY HUNTINGTON DISEASE…
E02 LONGITUDINAL HYBRID PET/MRI IN JUVENILE-ONSET HUNTINGTON DISEASE (JOHD)…
E03 UNCOVERING THE TEMPORAL SEQUENCE OF REGIONAL BRAIN VOLUME AND NEURAL CONNECTIVITY…
E04 FRONTO-STRIATAL CIRCUITS FOR COGNITIVE FLEXIBILITY IN FAR FROM ONSET HUNTINGTON’S…
E05 MUTATION-RELATED APPARENT MYELIN, NOT AXON DENSITY, DRIVES WHITE MATTER PATHOLOGY…
E06 DRUMMING MOTOR SEQUENCE TRAINING INDUCES APPARENT MYELIN REMODELLING IN HUNTINGTON…
E07 ALTERED IRON AND MYELIN IN PREMANIFEST HUNTINGTON’S DISEASE MORE THAN 20 YEARS BEF…
E08 TRACKING THE NEURODEGENERATION PATTERN OF THE ANTERIOR THALAMIC RADIATIONS IN HD:…
E09 MAGNETIC RESONANCE IMAGING VISUAL ANALYSIS OF NEUROMELANIN AND NIGROSOME-1 FOR THE…

Clinical studies

F01 DEVELOPMENT OF THE HUNTINGTON’S DISEASE INTEGRATED STAGING SYSTEM (HD-ISS)…
F02 MODELLING HUNTINGTON’S DISEASE PROGRESSION: INTERPRETATION, STAGING AND PROGNOSIS…
F03 FINE-GRAINED PREDICTION OF HUNTINGTON’S DISEASE PROGRESSION USING A STACKED ENSEMB…
F04 LINEAR MIXED MODEL FOR THE AGE OF ONSET PREDICTION IN HUNTINGTON DISEASE FROM A PE…
F05 BIOLOGICAL AND CLINICAL CHARACTERISTICS OF GENE CARRIERS FAR FROM PREDICTED ONSET…
F06 ‘WHERE DO WE GO FROM HERE?’: A META-SYNTHESIS OF QUALITATIVE LITERATURE EXAMINING…
F07 DEMOGRAPHIC CHARACTERISTICS AND HEALTH RESOURCE USE OF THE EUROPEAN PARTICIPANTS F…
F08 HUNTINGTON’S DISEASE BURDEN OF ILLNESS (HDBOI): STUDY METHODOLOGY, SAMPLE REPRESEN…
F09 LATE ONSET HUNTINGTON’S DISEASE PHENOTYPE PROGRESSION. 2 YEARS FOLLOW-UP IN 220 PA…
F10 DEVELOPMENT OF ASSESSMENTS FOR LATER STAGE HUNTINGTON’S DISEASE: HD STRUCTURED INT…
F11 IMPACT ON THE GRANDPARENTS-GRANDCHILDREN RELATIONSHIP IN HUNTINGTON’S DISEASE…
F12 RESEARCH PARTICIPATION: THE VIEW OF PERSONS AT RISK AND PERSONS WITH PREMANIFEST H…
F14 COLLABORATING WITH THE COMMUNITY TO CONDUCT CLINICAL TRIALS IN HUNTINGTON’S DISEAS…
F15 VISUAL-COGNITIVE IMPAIRMENT IN ASYMPTOMATIC AND SYMPTOMATIC CARRIERS OF HUNTINGTON…
F16 ETHNOGRAPHY AND SOCIAL COGNITION…
F17 AN ETHNOGRAPHIC PROTOCOL FOR EXPLORING SOCIAL FUNCTION DURING A PANDEMIC…
F18 THE ETHICS OF EXPLORING SOCIAL COGNITION IN HD USING ETHNOGRAPHY DURING A PANDEMIC…
F19 COGNITIVE RESERVE: THE LEISURE TIME CONCURS TO THE COGNITION PERFORMANCE AND TO TH…
F20 IS BURNOUT AN EARLY SIGN OF HUNTINGTON’S DISEASE AND MORE PREVALENT THAN IN THE GE…
F21 ON THE ASSOCIATION BETWEEN APATHY AND DEFICITS OF SOCIAL COGNITION AND EXECUTIVE F…
F22 NOVEL MEASURES OF APATHY IN HUNTINGTON’S DISEASE: CROSS-SECTIONAL AND LONGITUDINAL…
F23 IMPULSIVITY AND IRRITABILITY IN HUNTINGTON’S DISEASE: A COMMON FOUNDATION?…
F24 UNSUPERVISED CLUSTERING REVEALS LONGITUDINAL PSYCHIATRIC SIGNATURES IN HD…
F25 THE CLINICAL, IMAGING AND BIOLOGICAL FEATURES OF PSYCHOSIS IN HAN CHINESE PATIENTS…
F26 IDENTICAL TWINS .. ARE THEY IDENTICAL?…
F27 CLINICAL PRESENTATIONS IN PATIENT WITH 34 CAG-REPEATS (CASE REPORT)…
F28 NOVEL MUTATIONS AND FINDINGS IN A COHORT OF MCLEOD NEUROACANTHOCYTOSIS, AN X-LINKE…
F29 DOMINO-HD: A 12-MONTH OBSERVATIONAL COHORT STUDY OF LIFESTYLE FACTORS IN PEOPLE WI…
F30 Q-MOTOR ASSESSMENTS IN THE BIDIRECT COHORT STUDY: FEASIBILITY, NORMATIVE DATA AND…
F31 EXAMINING THE EFFECT OF EXERCISE ON THE PROGRESSION AND SEVERITY OF HUNTINGTON’S D…
F32 EXPLORING THE FEASIBILITY OF A NOVEL AND EFFICIENT TRIAL DESIGN FOR THE EVALUATION…
F33 PERCEPTIONS, MOTIVATORS AND BARRIERS TO THE ACCEPTANCE OF WEARABLE ACTIVITY TRACKE…
F34 REMOTE MONITORING OF SPEECH IN HD USING MOBILE DEVICES…
F35 SLEEP MONITORING IN HUNTINGTON’S DISEASE USING FITBIT COMPARED TO POLYSOMNOGRAPHY….
F36 DXA, BIA, ANTHROPOMETRY AND SKIN FOLDS METHODOLOGY IN BODY COMPOSITION…
F38 SKILL-BASED DYSPHAGIA TRAINING AS AN INTERVENTION FOR INDIVIDUALS WITH HUNTINGTON’…
F39 DESIGN OF AN ADAPTIVE RANDOMIZED CONTROLLED PHASE 1B/2A TRIAL OF WVE-003 IN PARTIC…
F40 PROOF-OF-CONCEPT STUDY TESTING SOM3355, A VMAT2 INHIBITOR FOR THE TREATMENT OF CHO…
F41 THE PROOF-HD PHASE 3 STUDY: PRIDOPIDINE’S OUTCOME ON FUNCTION IN HUNTINGTON DISEAS…
F42 EXPOSURE RESPONSE ANALYSIS (PKPD) PREDICTS OPTIMAL EXPOSURE OF PRIDOPIDINE FOR CLI…
F43 PRIDOPIDINE MAINTENANCE OF TOTAL FUNCTIONAL CAPACITY (TFC) CORRELATES WITH STABILI…
F44 HUNTINGTON’S DISEASE PATIENTS AND FAMILIES FACING COVID-19 EMERGENCY IN ITALY…
F45 IMPACT OF COVID-19 PANDEMIC IN PATIENTS WITH HUNTINGTON DIESEASE…
F46 THE EUROPEAN HUNTINGTON’S DISEASE NETWORK…
F47 THE EUROPEAN HUNTINGTON’S DISEASE NETWORK (EHDN) SCIENTIFIC SUPPORT…
F48 ENROLL-HD STUDY STATUS…
F49 ENROLL-HD CLINICAL TRIAL COMMITTEE…
F50 ENROLL-HD PLATFORM SUPPORT FOR INDUSTRY AND ACADEMIC SPONSORS…
F51 ENROLL-HD PLATFORM DATA RESOURCES…
F52 ENROLL-HD PLATFORM BIOSAMPLE RESOURCES…
F53 INTRODUCING JOIN-HD: THE JUVENILE ONSET INITIATIVE FOR HUNTINGTON’S DISEASE…
F54 “SPAZIO HUNTINGTON – A PLACE FOR CHILDREN”: AN ITALIAN OBSERVATIONAL, MULTICENTRE,…

Genetic testing and counselling

G01 MOLECULAR TESTING FOR HUNTINGTON DISEASE AND THE RISK OF DISCLOSURE OF UNSOLICITED…
G02 THE EXPERIENCE OF LIVING IN THE PRE-MANIFEST STAGE OF HUNTINGTON’S DISEASE: AN INT…
G03 THE HOLD ME TIGHT RELATIONSHIP PROGRAM FOR COUPLES FACING HUNTINGTON’S DISEASE…

Clinical care and clinical services

H01 DISEASE BURDEN IN PATIENTS WITH HUNTINGTON’S DISEASE FROM A NATIONWIDE SWEDISH REG…
H02 ‘THERE IS THIS BIG GAP’: THE UNMET NEEDS OF PEOPLE WITH ADVANCED HD, FAMILIES AND…
H03 EXPERIENCES OF OUTPATIENTS WITH HUNTINGTON’S DISEASE WITH CASE MANAGEMENT; A QUALI…
H04 MAPPING HD SERVICES IN THE UK – A PARTNERSHIP APPROACH…
H05 A JOINT INITIATIVE FOR IMPROVED CARE OF HUNTINGTON’S DISEASE PATIENTS IN GERMANY…
H06 CHALLENGES AND OPPORTUNITIES OF HUNTINGTON’S DISEASE IN EGYPT: A QUALITATIVE STUD…
H07 THE IMPACT OF A HIGH CARE UNIT FOR PATIENTS WITH HUNTINGTON’S DISEASE FROM A MULTI…
H08 MULTIDISCIPLINARY TREATMENT AND CARE WORKING GROUP — OCCUPATIONAL THERAPY…
H09 BEST PRACTICE OCCUPATIONAL THERAPY FOR PEOPLE WITH HD…
H10 APPLICABILITY AND EFFECTS ON INITIATIVE OF SOCIAL ROBOT TESSA IN PATIENTS WITH HUN…
H11 IMPLEMENTING PHYSIOTHERAPY HUNTINGTON’S DISEASE GUIDELINES IN CLINICAL PRACTICE: A…
H12 PSYCHOLOGICAL INTERVENTIONS FOR PEOPLE WITH HUNTINGTON’S DISEASE: A CALL TO ARMS…
H13 ADVANCE EUTHANASIA DIRECTIVES IN HUNTINGTON’S DISEASE: A PATIENTS’ PERSPECTIVE…
H14 END-OF-LIFE CONVERSTATIONS WITH PATIENTS WITH HUNTINGTON’S DISEASE…

Experimental therapeutics — preclinical

I01 ORALLY BIOAVAILABLE SMALL MOLECULE SPLICING MODIFIERS WITH SYSTEMIC AND EVEN HTT-L…
I02 A CAG REPEAT-TARGETING ARTIFICIAL MIRNA LOWERS THE MUTANT HUNTINGTIN LEVEL IN THE…
I03 CPEB ALTERATION AND ABERRANT TRANSCRIPTOME-POLYADENYLATION UNVEIL A TREATABLE VITA…
I04 REDUCTION OF GLUTAMATE DEHYDROGENASE INCREASES AUTOPHAGY AND AMELIORATE MOTILITY A…
I05 INCREASING BRAIN PALMITOYLATION RESCUES BEHAVIOR AND NEUROPATHOLOGY IN HUNTINGTON…
I06 SREBP2 DELIVERY TO STRIATAL ASTROCYTES NORMALIZES TRANSCRIPTION OF CHOLESTEROL BIO…
I07 A NEW GENERATION OF BRAIN-TARGETED NANOPARTICLES FOR CHOLESTEROL DELIVERY IN HUNTI…
I08 LXR SIGNALING IN THE STRIATUM AND NEUROPROTECTION IN HUNTINGTON’S DISEASE…
I09 IN VIVO MTHTT PROTEIN REDUCTION IN THE CNS AND PERIPHERY BY PASSIVE IMMUNIZATION W…
I10 ACUTE INNATE IMMUNE RESPONSES TO SIMULATED TRANSPLANTATION SURGERY IN TWO HD MOUSE…
I11 PHARMACOLOGIC INHIBITION OF THE CLASSICAL COMPLEMENT PATHWAY ENHANCES NEURONAL FUN…
I12 DECIPHERING THE NEUROPROTECTIVE ROLE OF SIGMA1 RECEPTOR, AN IMPORTANT FUNCTION TO…
I13 PRIDOPIDINE RESTORES MITOCHONDRIAL FUNCTION AND DECREASES ER STRESS WHICH IS MEDIA…

Clinical therapeutics

J01 TRIHEPTANOIN IS ASSOCIATED WITH CLINICAL STABILITY AND DECREASED CAUDATE ATROPHY I…
J02 TRIDENT: INVESTIGATING THE SAFETY ANF FEASIBILITY OF FETAL CELL TRANSPLANTS IN HUN…
J03 CLINICAL TRANSLATION OF STEM CELL THERAPIES FOR HUNTINGTON’S DISEASE (HD)…
J04 EFFICACY AND SAFETY OF TIAPRIDE FOR CHOREA TREATMENT IN HUNTINGTON’S DISEASE: A SY…
J05 A DIFFERENT DEPRESSION: ANTIDEPRESSANT EFFICACY AND COGNITIVE MECHANISMS OF MOOD D…