Article
Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes.
Journal of the neurological sciences - 1 Oct 1996
Filla A, De Michele G, Campanella G, Perretti A, Santoro L, Serlenga L, Ragno M, Calabrese O, Castaldo I, De Joanna G, Cocozza S
Abstract excerpt
We studied 83 patients from 36 Italian families with autosomal dominant cerebellar ataxia type I. Mean onset age +/- SD was 34.2 +/- 12.8 years with a mean anticipation of 12.8 +/- 15.1 in 52 parent-offspring pairs. Onset age anticipation occurred predominantly through paternal transmission. Mean...
Topics
- Adolescent
- Adult
- Age of Onset
- Cerebellar Ataxia
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Disease Progression
- Electrophysiology
- Female
- Genetic Linkage
- Genotype
- Humans