Article
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.
American journal of human genetics - 1 Oct 1995
Cancel G, Abbas N, Stevanin G, Dürr A, Chneiweiss H, Néri C, Duyckaerts C, Penet C, Cann H M, Agid Y
Abstract excerpt
The spinocerebellar ataxia 3 locus (SCA3) for type I autosomal dominant cerebellar ataxia (ADCA type I), a clinically and genetically heterogeneous group of neurodegenerative disorders, has been mapped to chromosome 14q32.1. ADCA type I patients from families segregating SCA3 share clinical features in common with those with Machado-Joseph disease (MJD), the gene of which maps to the same region. We show here...
Topics
- Adolescent
- Adult
- Age of Onset
- Base Sequence
- Child
- Genetic Heterogeneity
- Humans
- Machado-Joseph Disease
- Middle Aged
- Mosaicism
- Phenotype