Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1.

Abstract excerpt

Presymptomatic testing was done on four people from a large family in which an autosomal dominant form of spinocerebellar ataxia was segregating. Earlier genetic analysis had shown that in this family the disorder was tightly linked to an informative microsatellite polymorphism on chromosome 6p. Two subjects with prior risks of 50% of developing the disease had final risks after testing of 2%; the other two with...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosomes, Human, Pair 6
• Share to DNA, Satellite
• Share to Genes, Dominant