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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Molecular genetics of spinocerebellar ataxia type 8 ( SCA8).

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.[1]

References

  1. Molecular genetics of spinocerebellar ataxia type 8 (SCA8). Mosemiller, A.K., Dalton, J.C., Day, J.W., Ranum, L.P. Cytogenet. Genome Res. (2003) [Pubmed]
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