Article
Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese.
Journal of the neurological sciences - 1 Dec 1996
Sasaki H, Fukazawa T, Wakisaka A, Hamada K, Hamada T, Koyama T, Tsuji S, Tashiro K
Abstract excerpt
The gene for SCA2 has been mapped to chromosome 12q23-q24.1, but the mutant gene remained to be identified. When studying a Japanese family with SCA2, we noted that clinical features and disability varied among patients, with the central feature being progressive ataxia-slow eye movement-hyporefl...
Topics
- Adult
- Age of Onset
- Brain
- Chromosomes, Human, Pair 12
- Eye Movements
- Female
- Genetic Linkage
- Humans
- Japan
- Male
- Middle Aged
- Mutation
- Neurologic Examination
- Pedigree
- Phenotype
- Reflex
- Spinocerebellar Degenerations
- Syndrome