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[Advance in research on spinocerebellar ataxia 2].

Jing, Feng; Yang, Dan; Chen, Tao.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 35(2): 284-287, 2018 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-29653012
Spinocerebellar ataxia type 2 (SCA2) is a rare autosomal dominant progressive degenerative disease of the nervous system, which is characterized by a progressive cerebellar syndrome associated with saccadic eye scan, peripheral neuropathy, cognitive disorders, and other multisystem features. The gene predisposing to SCA2 has been mapped, which encodes the ataxin 2 protein. A CAG repeat expansion in the coding region of ATXN2 gene can cause extension of polyglutamine chain in the protein. This paper reviews recent progress made in the research on SCA2 in regard to its clinical features, pathology, etiology, pathogenesis and treatment.
Selo DaSilva