Article
A comprehensive review of spinocerebellar ataxia type 2 in Cuba.
Cerebellum (London, England) - 1 Jun 2011
Velázquez-Pérez Luis, Rodríguez-Labrada Roberto, García-Rodríguez Julio Cesar, Almaguer-Mederos Luis Enrique, Cruz-Mariño Tania, Laffita-Mesa José Miguel
Abstract excerpt
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia characterized by a progressive cerebellar syndrome associated to saccadic slowing, peripheral neuropathy, cognitive disorders, and other multisystem features. SCA2 is caused by the abnormal expansion of cytosine-adenine-guanine triplet repeats in the encoding region of the ATXN2 gene and therefore the expression of toxic polyglutamine...
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