Article
Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA).
Journal of neurology - 1 Apr 2002
Yabe Ichiro, Sasaki Hidenao, Kikuchi Seiji, Nonaka Michio, Moriwaka Fumio, Tashiro Kunio
Abstract excerpt
ABSTRACT We clinically and genetically studied three patients in a family with dentatorubro-pallidoluysian atrophy (DRPLA). The proband patient had 58/24 CAG repeat alleles of the DRPLA gene (normal < or = 34 repeats). Cerebellar ataxia first developed in the 6-7th decades and was the predominant feature for more than 10 years in all three, after which two of them manifested dementia and choreiform movements in...
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