Nature Genetics
21, 379 - 384 (1999)
doi:10.1038/7710
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)Michael D. Koob1, 3, Melinda L. Moseley1, Lawrence J. Schut1, Kellie A. Benzow1, Thomas D. Bird4, John W. Day1, 3
& Laura P.W. Ranum1, 2, 31
Departments of Neurology and Genetics, Box 295 UMHC, 420 Delaware St. SE., University of Minnesota, Minneapolis, Minnesota 55455,
USA. 2
Cell Biology & Development, Box 295 UMHC, 420 Delaware St. SE., University of Minnesota, Minneapolis, Minnesota 55455, USA. 3
Institute of Human Genetics, Box 295 UMHC, 420 Delaware St. SE., University of Minnesota, Minneapolis, Minnesota 55455, USA. 4
Department of Veterans Affairs Medical Center, Seattle, Washington 98108, USA.
Correspondence should be addressed to Michael D. Koob koobx001@gold.tc.umn.edu or Laura P.W. Ranum laura@gene.med.umn.eduMyotonic 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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