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Vol. 100, No. 1-4, 2003
Issue release date: 2003

Molecular genetics of spinocerebellar ataxia type 8 (SCA8)

Mosemiller A.K. · Dalton J.C. · Day J.W. · Ranum L.P.W.
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We previously reported that a transcribed but untranslated CTG expansion causes a novel form of ataxia, spinocerebellar ataxia type 8 (SCA8) (Koob et al., 1999). SCA8 was the first example of a dominant spinocerebellar ataxia that is not caused by the expansion of a CAG repeat translated into a polyglutamine tract. This slowly progressive form of ataxia is characterized by dramatic repeat instability and a high degree of reduced penetrance. The clinical and genetic features of the disease are discussed below.    

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