Article
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.
Nature genetics - 1 May 1995
Gouw L G, Kaplan C D, Haines J H, Digre K B, Rutledge S L, Matilla A, Leppert M, Zoghbi H Y, Ptácek L J
Abstract excerpt
A heterogeneous group of neurological disorders known as the spinocerebellar ataxias (SCA) are characterized by degeneration of the cerebellum, spinal cord and brainstem. We describe linkage analysis in four unusual SCA families revealing a distinct disease locus on chromosome 3p14-21.1. The disease in these families is distinguished from other forms of SCA by concomitant retinal degeneration. Initial visual...
Topics
- Adolescent
- Adult
- Age of Onset
- Alleles
- Black People
- Child
- Child, Preschool
- Chromosomes, Human, Pair 3
- Color Vision Defects
- Female
- Genetic Linkage