Phenotypic Spectrum of Movement Disorders in TBC1D24 Gene Variants: A Case Series
Objective: To report the phenotypic spectrum of movement disorders in 5 pediatric patients with TBC1D24 gene variants and provide accompanying video. Background: The TBC1D24 gene…Adherence with Digital Outcome Measures in Focal Dystonias
Objective: We assessed patient adherence with an app-based patient-centered outcome (PCO) tool for focal dystonia in a prospective study to determine the impact of dystonia…MDS Task Force on Tic Disorders: Development of a New Classification Scheme for Tic Disorders
Objective: To establish a clear definition and axis classification scheme for tics that serves to separate phenomenology from etiology. Background: Gilles de la Tourette documented…A RNF213 truncating variant causes an autosomal dominant disorder with brainstem and basal ganglia lesions and a Huntington-like phenotype
Objective: To report a novel stop-gain variant in the RNF213 gene in two individuals, a father and son, presenting with variable neurologic presentations and similar…Safety, Feasibility, and Effects of Time-Restricted Eating in Early-Stage Huntington’s Disease: Preliminary Analysis of a Clinical Pilot Trial
Objective: Evaluate whether 12 weeks of daily time-restricted eating (TRE) appears safe and feasible in persons with early-stage Huntington's disease (HD) and explore its effects…Essential Tremor Prevalence in Northeast-Central Pennsylvania
Objective: The primary objective was to estimate the crude prevalence (CP) of Essential Tremor (ET) in Northeast-Central Pennsylvania (NEC-PA), where the Geisinger Health System (GHS)…Novel CUX2 Mutation Identified in Patient with Clinical Paroxysmal Nonkinesigenic Dyskinesia
Objective: In this case, we present a novel mutation in the regulatory region for CUX-2 that is associated with clinical PNKD. Background: Paroxysmal nonkinesigenic dyskinesias…The Frontalis Behavioral Trick in Blepharospasm
Objective: To describe clinical features of the frontalis behavioral trick in blepharospasm. Background: Blepharospasm is a form of dystonia that is characterized by stereotyped, bilateral…Two Cases of SCN4A Temperature-Sensitive Sodium Channelopathy: From Dystonia to Myotonia
Objective: To evaluate whether these symptoms, previously categorized as dystonic, might represent manifestations of a temperature-sensitive channelopathy with myotonic features [1]. Background: We report two…Pain Assessment in Cervical Dystonia: Insights from the PIDS and Dystonia-PCS Scales
Objective: To assess pain in patients with cervical dystonia using Pain in Dystonia Scale (PIDS) and Dystonia-Pain Classification System (Dystonia-PCS). Background: Dystonia is a heterogeneous…
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