Article
Spinocerebellar ataxia type 2 in China: molecular analysis and genotype-phenotype correlation in nine families.
Neurology - 1 Aug 1998
Zhou Y X, Wang G X, Tang B S, Li W D, Wang D A, Lee H S, Sambuughin N, Zhou L S, Tsuji S, Yang B X, Goldfarb L G
Abstract excerpt
Sixteen patients from nine Chinese families with spinocerebellar ataxia type 2 (SCA2) were heterozygous for a CAG repeat expansion in the SCA2 gene containing 37 to 56 repeats, whereas the normal alleles carried 14 to 28 repeats. One or two CAA triplets within the CAG tract were seen in normal, b...
Topics
- Adolescent
- Adult
- Age of Onset
- Female
- Genes, Dominant
- Genotype
- Heterozygote
- Humans
- Male
- Middle Aged
- Phenotype
- Spinocerebellar Degenerations