Article
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?
Annals of neurology - 1 Dec 1997
Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen J T, Riess O
Abstract excerpt
Seventy-seven families with autosomal dominant cerebellar ataxia were analyzed for the CAG repeat expansions causing spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. The SCA1 mutation accounted for 9%, SCA2 for 10%, SCA3 for 42%, and SCA6 for 22% of German ataxia families. Seven of 27 SCA6 pati...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Cerebellar Ataxia
- Child
- Evoked Potentials, Motor
- Female
- Humans
- Linear Models
- Male
- Middle Aged
- Mutation
- Neural Conduction
- Phenotype
- Trinucleotide Repeats