Article
[SCA6: From gene identification to recent progress on pathogenesis].
Rinsho shinkeigaku = Clinical neurology - 1 Nov 2010
Watase Kei, Ishikawa Kinya, Mizusawa Hidehiro
Abstract excerpt
Spinocerebellar ataxia type 6 (SCA6) is one of the common dominantly inherited ataxias in Japan, featuring late-onset ataxia and selective Purkinje cell (PC) degeneration. Molecular pathogenesis of SCA6 has been attracting considerable attention since it is caused by small CAG repeat expansions within the Ca(v)2.1 voltage-gated Ca(++) channel gene (CACNA1A). During the past 9 years, efforts have been made to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
