Meiotic CAG repeat instability in spinocerebellar ataxia type 6: Maternally transmitted elongation in a presumed sporadic case

Suzanne Granhøj Lindquist,Anne Nørremølle,Lena Elisabeth Hjermind,Lis Hasholt,Jørgen Erik Nielsen

Journal of the Neurological Sciences（2006）

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摘要

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominantly inherited disorder characterized by cerebellar ataxia, dysarthria and nystagmus. The molecular background for the disorder is a CAG repeat expansion in the CACNA1A gene located on chromosome 19. The size of SCA6 expanded alleles is usually stable, and variation in repeat size over successive generations is rare.

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关键词

Spinocerebellar ataxia type 6,CAG repeat,Meiotic instability,SCA6

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