A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype

被引:0
|
作者
C. Pirkevi
S. Lesage
C. Condroyer
H. Tomiyama
N. Hattori
S. Ertan
A. Brice
A. N. Başak
机构
[1] Boğaziçi University,Molecular Biology and Genetics Department, Neurodegeneration Research Laboratory
[2] INSERM,Department of Neurology
[3] UMR S679,Department of Neurology, Cerrahpaşa Faculty of Medicine
[4] Pierre et Marie Curie-Paris6 University,Pitié
[5] UMR S679,Salpêtrière Medical School
[6] Pitié-Salpêtrière,Department of Genetics and Cytogenetics, AP
[7] Federative Institute for Neuroscience Research,HP
[8] IFR 070,undefined
[9] Pitié-Salpêtrière,undefined
[10] Juntendo University School of Medicine,undefined
[11] University of Istanbul,undefined
[12] Pierre and Marie Curie-Paris6 University,undefined
[13] Pitié-Salpêtrière Hospital,undefined
来源
neurogenetics | 2009年 / 10卷
关键词
Parkinson’s disease; Genetics; LRRK2; Haplotype;
D O I
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中图分类号
学科分类号
摘要
The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.
引用
收藏
页码:271 / 273
页数:2
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