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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

Abstract：

: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 (4-16) in 475 non-ataxia individuals. Analysis of the repeat length in families of the affected individuals revealed that the expansion segregated with the phenotype in every patient. We identified six isoforms of the human alpha 1A calcium channel subunit. The CAG repeat is within the open reading frame and is predicted to encode glutamine in three of the isoforms. We conclude that a small polyglutamine expansion in the human alpha 1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Zhuchenko O,Bailey J,Bonnen P,Ashizawa T,Stockton DW,Amos C,Dobyns WB,Subramony SH,Zoghbi HY,Lee CC

doi

10.1038/ng0197-62

subject

Has Abstract

pub_date

1997-01-01 00:00:00

pages

62-9

issue

1

eissn

1061-4036

issn

1546-1718

journal_volume

15

pub_type

杂志文章

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