Cell biology of spinocerebellar ataxia

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108 Scopus citations

Abstract

Ataxia is a neurological disorder characterized by loss of control of body movements. Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is a biologically robust group of close to 30 progressive neurodegenerative diseases. Six SCAs, including the more prevalent SCA1, SCA2, SCA3, and SCA6 along with SCA7 and SCA17 are caused by expansion of a CAG repeat that encodes a polyglutamine tract in the affected protein. How the mutated proteins in these polyglutamine SCAs cause disease is highly debated. Recent work suggests that the mutated protein contributes to pathogenesis within the context of its " normal" cellular function. Thus, understanding the cellular function of these proteins could aid in the development of therapeutics.

Original languageEnglish (US)
Pages (from-to)167-177
Number of pages11
JournalJournal of Cell Biology
Volume197
Issue number2
DOIs
StatePublished - Apr 2012

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