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Nat Genet. 1999 Apr;21(4):379-84.

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

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  • 1Department of Neurology, Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA. koobx001@gold.tc.umn.edu

Abstract

Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). This expansion, located on chromosome 13q21, was isolated directly from the genomic DNA of an ataxia patient by RAPID cloning. SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.

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