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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 unrelated patients with late onset ataxia had alleles with larger repeat numbers (21-27) compared to the number of repeats...

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PMID: 8988170
DOI: 10.1038/ng0197-62

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