Article
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Nature genetics - 1 Jan 1997
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton D W, Amos C, Dobyns W B, Subramony S H, Zoghbi H Y, Lee C C
Abstract excerpt
A polymorphic CAG repeat was identified in the human alpha 1A voltage-dependent calcium channel subunit. To test the hypothesis that expansion of this CAG repeat could be the cause of an inherited progressive ataxia, we genotyped a large number of unrelated controls and ataxia patients. Eight unr...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Calcium Channels
- Cerebellar Ataxia
- Female
- Genes, Dominant
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Peptides