The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease
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摘要The association between idiopathic Parkinson's disease (PD) and the ATP13A2 (PARK9) Ala746Thr variant, associated with Kufor-Rakeb syndrome, is controversial. We investigated this association in 69 patients with early onset PD (EOPD; <= 50 years of age), 192 patients with late onset PD (LOPD; > 50 years of age), and 180 healthy controls in the Chinese population in Hong Kong. The presence of the Ala746Thr variant in the ATP13A2 locus was examined in all participants. We detected the heterozygous Ala746Thr variant in one healthy control (0.6%), one patient with EOPD (1.4%, p = 0.50), and one patient with LOPD (0.5%, p = 0.96). We suggest that the ATP13A2 Ala746Thr variant is not a common risk factor for PD in the Chinese population in Hong Kong. (C) 2012 Elsevier Ltd. All rights reserved.
著者Chan AYY, Baum L, Tang NLS, Lau CYK, Ng PW, Hui KF, Mizuno Y, Kwan JY, Mok VCT, Kuo SH
期刊名稱Journal of Clinical Neuroscience
出版年份2013
月份5
日期1
卷號20
期次5
出版社ELSEVIER SCI LTD
頁次761 - 762
國際標準期刊號0967-5868
電子國際標準期刊號1532-2653
語言英式英語
關鍵詞ATP13A2; Chinese; Genetics; PARK9; Parkinson's disease
Web of Science 學科類別Clinical Neurology; CLINICAL NEUROLOGY; Neurosciences; NEUROSCIENCES; Neurosciences & Neurology

上次更新時間 2020-28-11 於 23:10