Article
Spinocerebellar ataxia type 5.
Handbook of clinical neurology - 1 Jan 2012
Dick Katherine A, Ikeda Yoshio, Day John W, Ranum Laura P W
Abstract excerpt
In 1994, Ranum and colleagues identified a ten-generation American kindred with a relatively mild autosomal dominant form of spinocerebellar ataxia (Ranum et al., 1994). The mutation was mapped to the centromeric region of chromosome 11, and the disorder designated SCA5 (Ranum et al., 1994). Using a multifaceted mapping approach, Ikeda et al. (2006) discovered that β-III spectrin (SPTBN2) mutations cause...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.