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…Spectrum of Orthopaedic Problems in Patients with Movement Disorders: A Systematic Review of Clinical Manifestations
Objective: To identify and summarizes the spectrum of orthopedic problems reported in patients with movement disorders Background: Movement disorders such as Parkinson's disease, Dystonia, Essential tremor,…Psychiatric manifestations in premanifest Huntington’s disease as early indicators of motor onset: a systematic review
Objective: To identify and analyze psychiatric manifestations acting as early indicators in individuals carrying the HTT gene mutation during the premanifest stage, evaluating their prevalence…Psychotic Symptoms and Cognitive Impairment in Huntington’s Disease
Objective: To investigate the clinical and cognitive correlates of psychotic symptoms in patients with Huntington’s disease (HD). Background: Psychiatric manifestations are common in HD, but…Clinical Profile and Key Correlates of Genetic Load, Motor Severity, and Caregiver Burden in an Iranian Huntington’s Disease Cohort
Objective: To characterize an Iranian Huntington’s disease (HD) cohort and quantify associations between CAG repeat length, age at onset, motor severity, and caregiver burden. Background:…Clinical and Phenotypic Features of Concurrent Huntington’s Disease and Amyotrophic Lateral Sclerosis: A Case Series
Objective: To describe the clinical and phenotypic features of patients with concurrent Huntington’s disease (HD) and amyotrophic lateral sclerosis (ALS), and to examine HD patients…Antidepressants in Huntington’s Disease: A Meta Analysis of Mood and Motor Outcomes with Placebo-controlled Trials
Objective: To evaluate the efficacy of antidepressants for depression in Huntington’s disease (HD). Background: Depression is highly prevalent in HD. Despite frequent clinical use of…
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