Article
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.
Orphanet journal of rare diseases - 18 Jan 2013
Fujioka Shinsuke, Sundal Christina, Wszolek Zbigniew K
Abstract excerpt
Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor. The onset of symptoms typically occurs in adulthood; however, a minority of patients develop clinical features in adolescence. The incidence of ADCA Type III is unknown. ADCA...
Topics
- Diagnosis, Differential
- Exercise
- Genotype
- Humans
- Mutation
- Phenotype
- Prevalence
- Spinocerebellar Ataxias
- Trinucleotide Repeats