Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Am. J. Hum. Genet. 74:1216–1224, 2004 Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10 Tohru Matsuura,1,2,5 Ping Fang,2 Xi Lin,7 Mehrdad Khajavi,2 Kuniko Tsuji,1,5 Astrid Rasmussen,8 Raji P. Grewal,9 Madhureeta Achari,6 Maria E. Alonso,8 Stefan M. Pulst,10 Huda Y. Zoghbi,1,2,3,4 David L. Nelson,2 Benjamin B. Roa,2 and Tetsuo Ashizawa1,5,7 Departments of 1Neurology, 2Molecular and Human Genetics, and 3Pediatrics, and 4Howard Hughes Medical Institute, Baylor College of Medicine, 5Veterans Affairs Medical Center, and 6private practice, Houston; 7Department of Neurology, The University of Texas Medical Branch, Galveston; 8Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurologı´a y Neurocirugı´a, Me´xico City; 9New Jersey Neuroscience Institute, Seton Hall University, Edison; and 10Department of Neurology, Rose Moss Laboratory for Parkinson and Neurodegenerative Diseases, Burns and Allen Research Institute, Division of Neurology, Cedars-Sinai Medical Center, University of California at Los Angeles School of Medicine, Los Angeles Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by ataxia, seizures, and anticipation. It is caused by an expanded ATTCT pentanucleotide repeat in intron 9 of a novel gene, designated “SCA10.” The ATTCT expansion in SCA10 represents a novel class of microsatellite repeat and is one of the largest found to cause human diseases. The expanded ATTCT repeat is unstably transmitted from generation to generation, and an inverse correlation has been observed between size of repeat and age at onset.
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