Article
Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics.
Journal of the neurological sciences - 1 Apr 1998
Mizushima K, Watanabe M, Abe K, Aoki M, Itoyama Y, Shizuka M, Okamoto K, Shoji M
Abstract excerpt
We analyzed 13 patients with spinocerebellar ataxia type 2 (SCA2) in seven unrelated families who live in Gunma Prefecture, Japan (population approx. 2,000,000), and documented the clinical and molecular properties correlated with the CAG repeat expansion. Twelve of the 13 patients and one presymptomatic female were genetically examined, and the CAG repeat number of the expanded and normal alleles was 40.8+/-4.8...
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