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Molecular genetics of spinocerebellar ataxia type 8 (SCA8)

Mosemiller A.K.a,c · Dalton J.C.a,c · Day J.W.b,c · Ranum L.P.W.a,c
Departments of aGenetics, Cell Biology, and Development, bNeurology, and the cInstitute of Human Genetics, University of Minnesota, Minneapolis MN (USA) Cytogenet Genome Res 100:175–183 (2003) (DOI:10.1159/000072852)


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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