A biomarker of Huntington’s disease progression derived from deep neural speech representations
Objective: To derive a speech-based score reflecting Huntington’s disease (HD) progression from deep neural representations of raw voice recordings and evaluate its potential as a…Sleep Architecture and Cognitive Performance in Early Huntington’s Disease: A Pilot Study
Objective: Characterize sleep architecture and cognitive performance in people with early Huntington’s disease (HD) and explore their associations. Background: Cognitive impairment is a devastating feature…Sleep Disturbances in Huntington’s Disease A Cross-Sectional Study
Objective: To determine the prevalence of poor sleep quality in HD mutation carriers and to characterize objective sleep parameters. Background: HD is a progressive neurodegenerative…Speech Changes as Biomarkers in Huntington’s Disease: a Meta-Analysis
Objective: To perform a meta-analysis evaluating acoustic speech features as potential biomarkers of Huntington’s disease by comparing individuals with manifest HD and premanifest HD to…Non-motor symptoms in Huntington’s disease: Results from the Validation of the Non-motor Symptoms Scale (MDS-NMS)
Objective: To present validation results of the Movement Disorder Society Non-Motor Symptoms Scale (MDS-NMS), originally developed for Parkinson’s disease, for use in people with Huntington’s…Acute Hemichorea as a Rare Presentation of Right Temporoparietal Infarction: A Case Report
Objective: This case illustrates acute hemichorea as a rare manifestation of right temporo-parietal infaction. Background: Acquired chorea can result from structural, metabolic, infectious pharmacological, or…FuRST 2.0, A Patient Reported Outcome (PRO) Measure of Functional Ability in Huntington’s Disease (HD): Getting Response Options Right
Objective: To evaluate the response options on the FuRST 2.0 measure of HD functional ability. Background: FuRST 2.0 is a PRO created to detect changes…Marked intrafamilial phenotypic variability in VPS13A disease: a case series of three siblings
Objective: To describe a case series of neuroacanthocytosis in three siblings from the same family with the same pathogenic VPS13A nonsense mutation, highlighting the marked…Anti-mGluR5 Antibody-Mediated Chorea Secondary to Gastric Cancer: A case report
Objective: To describe a clinical case of a Chorea suspected to be Anti-mGluR5 Antibody-Mediated Secondary to Gastric Cancer Background: Metabotropic glutamate receptor 5 (mGLUR5) is…HD-RAC (Huntington’s Disease Research at Convention) Series: Novel approach to pilot data collection for outcome measures in Huntington’s disease
Objective: The aim of HD-RAC studies is to answer focused research questions or collect pilot data for use of digital health technology (DHT) in clinical…
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