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.