Genotype-Phenotype correlations of Episodic Ataxia (EA). MDSGene Systematic Review
Objective: To systematically review genotype-phenotype correlations for the four known genes causing EA. Background: EA is a group of heterogeneous disorders characterized by recurrent attacks…Update from the international MDSGene initiative: International team science to perform genotype-phenotype correlations for hereditary movement disorders
Objective: The international MDSGene initiative aims to extract, summarize, curate, and illustrate data from movement disorder patients on the phenotypic and mutational level for which…Hearing Evaluation (Peripheral and Central) in Patients with Sporadic Ataxia
Objective: To describe the audiological and electrophysiological results in patients with sporadic ataxia. Background: Patients with progressive non-familial adult ataxia are classified into a sporadic…Novel CACNA1A gene mutation in a Taiwan family with episodic ataxia type 2
Objective: To illustrate a family of episodic ataxia type 2 with atypical presentations and a novel mutation of CACNA1A gene Background: The episodic ataxias (EAs)…Vestibulo-Ocular Reflex Assessment in Patients with Sporadic Ataxia
Objective: To identify vestibular alterations in patients with sporadic ataxia (SA). Background: Sporadic ataxia (SA) is classified as a neurological condition characterized by adult onset,…Clinical and genetic analysis of ataxic patients with CACNA1A mutations in Taiwan
Objective: To study the clinical presentation of ataxic patients with CACNA1A mutations in a Taiwanese cohort. Background: Mutations of CACNA1A gene is the genetic cause…Allelic CACNA1A disorders: a retrospective cohort analysis on clinical course and overlapping features
Objective: To (1) retrospectively study emerging clinical symptoms and disease course in a cohort of patients with genetically proven CACNA1A mutations and (2) to define…Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…Phenotype and genotype variability of CACNA1A in a cohort of ataxia in Taiwan
Objective: To study the phenotype and genotype variability of CACNA1A in a cohort of ataxia. Background: CACNA1A gene encodes a voltage-dependent, P/Q type calcium channel…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.