Literature DB >> 23522931

The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.

Anne Y Y Chan1, Larry Baum, Nelson L S Tang, Christine Y K Lau, Ping Wing Ng, Kwok Fai Hui, Yoshi Mizuno, Justin Y Kwan, Vincent C T Mok, Sheng-Han Kuo.   

Abstract

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.
Copyright © 2012 Elsevier Ltd. All rights reserved.

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Year:  2013        PMID: 23522931      PMCID: PMC4209840          DOI: 10.1016/j.jocn.2012.05.052

Source DB:  PubMed          Journal:  J Clin Neurosci        ISSN: 0967-5868            Impact factor:   1.961


  5 in total

1.  Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China.

Authors:  Qing-Zhou Fei; Li Cao; Qin Xiao; Ting Zhang; Lan Zheng; Xi-Jin Wang; Gang Wang; Hai-Yan Zhou; Ying Wang; Sheng-Di Chen
Journal:  Neurosci Lett       Date:  2010-03-19       Impact factor: 3.046

2.  ATP13A2 variants in early-onset Parkinson's disease patients and controls.

Authors:  Ana Djarmati; Johann Hagenah; Kathrin Reetz; Susen Winkler; Maria Isabel Behrens; Heike Pawlack; Katja Lohmann; Alfredo Ramirez; Vera Tadić; Norbert Brüggemann; Daniela Berg; Hartwig R Siebner; Anthony E Lang; Peter P Pramstaller; Ferdinand Binkofski; Vladimir S Kostić; Jens Volkmann; Thomas Gasser; Christine Klein
Journal:  Mov Disord       Date:  2009-10-30       Impact factor: 10.338

3.  Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

Authors:  Aleksandar Rakovic; Barbara Stiller; Ana Djarmati; Antonia Flaquer; Jan Freudenberg; Mohammad-Reza Toliat; Michael Linnebank; Vladimir Kostic; Katja Lohmann; Sebastian Paus; Peter Nürnberg; Christian Kubisch; Christine Klein; Ullrich Wüllner; Alfredo Ramirez
Journal:  Mov Disord       Date:  2009-02-15       Impact factor: 10.338

4.  ATP13A2 variability in Parkinson disease.

Authors:  Carles Vilariño-Güell; Alexandra I Soto; Sarah J Lincoln; Samia Ben Yahmed; Mounir Kefi; Michael G Heckman; Mary M Hulihan; Hua Chai; Nancy N Diehl; Rim Amouri; Alex Rajput; Deborah C Mash; Dennis W Dickson; Lefkos T Middleton; Rachel A Gibson; Faycal Hentati; Matthew J Farrer
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878

5.  Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.

Authors:  C H Lin; E K Tan; M L Chen; L C Tan; H Q Lim; G S Chen; R M Wu
Journal:  Neurology       Date:  2008-11-18       Impact factor: 9.910

  5 in total
  2 in total

1.  Analysis of Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in Parkinson's disease patients in Xinjiang Uygur and Han ethnic groups.

Authors:  Guihua Li; Zhenzhong Zhang; Huan Xia; Xinling Yang
Journal:  Med Sci Monit       Date:  2014-11-06

Review 2.  Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

Authors:  Xinglong Yang; Yanming Xu
Journal:  Biomed Res Int       Date:  2014-08-14       Impact factor: 3.411

  2 in total

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