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.
© 2003 S. Karger AG, Basel
Received 23 December 2002;
revision accepted 6 March 2003.
Number of Print Pages : 9
Number of Figures : 5, Number of Tables : 0, Number of References : 68
Cytogenetic and Genome Research
Formerly ‘Cytogenetics and Cell Genetics’
Vol. 100, No. 1-4, Year 2003 (Cover Date: 2003)
Journal Editor: H.P. Klinger, Bronx, N.Y.; M. Schmid, Würzburg
ISSN: 1424–8581 (print), 1424–859X (Online)
For additional information: http://www.karger.com/journals/cgr
Article / Publication Details
Published online: 10/15/2003
Issue release date: 2003
Number of Print Pages: 9
Number of Figures: 5
Number of Tables: 0
ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)
For additional information: http://www.karger.com/CGR
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