Advance in research on spinocerebellar ataxia 2.
10.3760/cma.j.issn.1003-9406.2018.02.032
- Author:
Feng JING
1
;
Dan YANG
;
Tao CHEN
Author Information
1. Department of Neurology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China. dr_taochen@yahoo.com.
- Publication Type:Journal Article
- MeSH:
Animals;
Ataxin-2;
genetics;
Humans;
Spinocerebellar Ataxias;
etiology;
genetics;
pathology;
therapy
- From:
Chinese Journal of Medical Genetics
2018;35(2):284-287
- CountryChina
- Language:Chinese
-
Abstract:
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.
