Identification and characterization of the gene causing type 1 spinocerebellar ataxia
β Scribed by Banfi, Sandro; Servadio, Antonio; Chung, Ming-yi; Kwiatkowski, Thomas J.; McCall, Alanna E.; Duvick, Lisa A.; Shen, Ying; Roth, Elizabeth J.; Orr, Harry T.; Zoghbi, H.Y.
- Book ID
- 109916674
- Publisher
- Nature Publishing Group
- Year
- 1994
- Tongue
- English
- Weight
- 915 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1061-4036
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The CAG repeat tract at the autosomal dominant spinocerebellar ataxia type 1 (SCA1) locus was analyzed in SCA1 families and French-Acadian, African-American, Caucasian, Greenland Inuit, and Thai populations. The normal alleles had 9-37 repeats, whereas disease alleles contained 44-64 repeats. The CA
Autosomal dominant cerebellar ataxias (ADCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar ataxia and a varying combination of pyramidal and extrapyramidal signs, peripheral neuropathy, external ophthalmoplegia, and dyspha
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