Article
[Spinocerebellar ataxia: advances in genetic research and its clinical implication].
[Hokkaido igaku zasshi] The Hokkaido journal of medical science - 1 Jan 1997
Sasaki H
Abstract excerpt
Hereditary spinocerebellar ataxia (SCA) is a cluster of genetically heterogeneous disorders, and was classified based on the mode of inheritance and clinicopathological features. Recent molecular genetic studies determined the locus of responsible mutation in 7 dominant SCAs ¿SCA1, SCA2, Machado-...
Topics
- Age of Onset
- Chromosome Mapping
- Genes, Dominant
- Genes, Recessive
- Genotype
- Humans
- Mutation
- Phenotype
- Spinocerebellar Degenerations
- Trinucleotide Repeats
