Article
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.
Archives of neurology - 1 Aug 2004
Bruni Amalia C, Takahashi-Fujigasaki Junko, Maltecca Francesca, Foncin Jean Francois, Servadio Antonio, Casari Giorgio, D'Adamo Pio, Maletta Raffaele, Curcio Sabrina A M, De Michele Giuseppe, Filla Alessandro, El Hachimi Khalid H, Duyckaerts Charles
Abstract excerpt
BACKGROUND: Spinocerebellar ataxia type 17 is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in the TATA box-binding protein gene. Ataxia is typically the first sign whereas behavioral symptoms occur later. OBJECTIVE: To characterize the unusual phenotypic expression of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
