Article
HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds.
Acta neurologica Scandinavica - 1 Apr 1992
Spadaro M, Giunti P, Lulli P, Frontali M, Jodice C, Cappellacci S, Morellini M, Persichetti F, Trabace S, Anastasi R
Abstract excerpt
Five families with late onset autosomal dominant spinocerebellar ataxia, were studied. Linkage between the disease and HLA loci on the short arm of chromosome 6 was shown in the two largest pedigrees. Clinical study of 26 patients and neuropathological study in one are reported. The disease was c...
Topics
- Adult
- Brain
- Cerebellum
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 6
- Female
- Genes, Dominant
- Genetic Linkage
- Genetic Markers
- HLA Antigens
- Humans
- Italy
- Male
- Middle Aged
- Pedigree
- Phenotype
- Spinocerebellar Degenerations