Article
Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 1997
Becher M W, Rubinsztein D C, Leggo J, Wagster M V, Stine O C, Ranen N G, Franz M L, Abbott M H, Sherr M, MacMillan J C, Barron L, Porteous M, Harper P S, Ross C A
Abstract excerpt
Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant disorder that clinically overlaps with Huntington's disease (HD) and manifests combinations of chorea, myoclonus, seizures, ataxia, and dementia. DRPLA is caused by a CAG triplet repeat (CTG-B37) expansion coding for polyglutamine on chromosome 12 and exhibits the genetic phenomenon of anticipation. This neurodegenerative disease has only...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.