Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)nin the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis
Author:
Affiliation:
1. Department of Neurology and Neurological Science; Graduate School; Tokyo Medical and Dental University; Tokyo Japan
2. Department of Pathology; Graduate School; Tokyo Medical and Dental University; Tokyo Japan
Publisher
Wiley
Subject
Clinical Neurology,General Medicine,Pathology and Forensic Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/neup.12032/fullpdf
Reference23 articles.
1. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond;Dürr;Lancet Neurol,2010
2. Spinocerebellar ataxia type 31 is associated with “inserted” penta-nucleotide repeats containing (TGGAA)n;Sato;Am J Hum Genet,2009
3. A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III;Owada;Neurology,2005
4. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains;Ishikawa;Am J Hum Genet,2005
5. Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan;Yoshida;Cerebellum,2009
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