Article
The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.
American journal of human genetics - 1 Dec 1996
David G, Giunti P, Abbas N, Coullin P, Stevanin G, Horta W, Gemmill R, Weissenbach J, Wood N, Cunha S, Drabkin H, Harding A E, Agid Y, Brice A
Abstract excerpt
Two families with autosomal dominant cerebellar ataxia with pigmentary macular dystrophy (ADCA type II) were investigated. Analysis of 23 parent-child couples demonstrated the existence of marked anticipation, greater in paternal than in maternal transmissions, with earlier age at onset and a mor...
Topics
- Adolescent
- Adult
- Age Distribution
- Age of Onset
- Aged
- Brazil
- Cerebellar Ataxia
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 3
- Female
- Genetic Linkage
- Genotype