Article
Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan.
Neurology - 1 Aug 1995
Kameya T, Abe K, Aoki M, Sahara M, Tobita M, Konno H, Itoyama Y
Abstract excerpt
Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat. We analyzed CAG repeat expansion in 25 families in the northeast of Japan with hereditary ataxia of Menzel type. Twenty of 38 patients in 12 families had expanded allele for SCA...
Topics
- Adult
- Alleles
- Central Nervous System
- DNA
- Female
- Humans
- Japan
- Male
- Middle Aged
- Muscles
- Mutation
- Phenotype
- RNA
- RNA, Messenger
- Repetitive Sequences, Nucleic Acid
- Spinocerebellar Degenerations
