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Article

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect.

Journal of medical genetics - 1 Feb 1999

Mizushima K, Watanabe M, Kondo I, Okamoto K, Shizuka M, Abe K, Aoki M, Shoji M

Abstract excerpt

Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan. In four of the seven families, we detected CCG or CCGCCG interruptions in only the expanded...

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Identifiers

PMID: 10051008
PMCID: PMC1734293

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