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February 2004

Spinocerebellar Ataxia Type 17: Latest Member of Polyglutamine Disease Group Highlights Unanswered Questions

Arch Neurol. 2004;61(2):183-184. doi:10.1001/archneur.61.2.183

Expansion of CAG repeat units coding for polyglutamine stretches has been identified in at least 9 hereditary neurodegenerative diseases, including spinal and bulbar muscular atrophy; Huntington disease; spinocerebellar ataxia (SCA) types 1, 2, 6, 7, and 17; Machado-Joseph disease (also called SCA3); and dentatorubral-pallidoluysian atrophy. Among these, SCA17, which is caused by expansion of a CAG/CAA repeat coding for a polyglutamine stretch of the TATA-binding protein (TBP) gene, is the latest polyglutamine disease.

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