Article
Clinical and molecular features of spinocerebellar ataxia type 6.
Neurology - 1 Nov 1997
Stevanin G, Dürr A, David G, Didierjean O, Cancel G, Rivaud S, Tourbah A, Warter J M, Agid Y, Brice A
Abstract excerpt
The mutation involved in spinocerebellar ataxia type 6 (SCA6) is a small CAG expansion in the alpha-1A subunit of the voltage-dependent calcium channel gene. We looked for this mutation in 91 families with autosomal-dominant cerebellar ataxias and found that SCA6 is a minor locus in our series (2...
Topics
- Adult
- Age of Onset
- Aged
- Alleles
- Family Health
- Female
- Gene Frequency
- Genotype
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Spinocerebellar Degenerations
- Trinucleotide Repeats