Lrrk2 mutations in south america: a study of Chilean Parkinson's disease

被引：20

作者：

Perez-Pastene, Carolina

Cobb, Stephanie A.

Diaz-Grez, Fernando

Hulihan, Mary A.

Miranda, Marcelo

Venegas, Pablo

Godoy, Osvaldo Trujillo

Kachergus, Jennifer M.

Ross, Owen A.

Layson, Luis

Farrer, Matthew J.

Segura-Aguilar, Juan

机构：

[1] Univ Chile, Fac Med, ICBM, Programme Mol & Clin Pharmacol, Santiago 7, Chile

[2] Mayo Clin, Coll Med, Dept Neurosci, Jacksonville, FL 32224 USA

来源：

NEUROSCIENCE LETTERS | 2007年 / 422卷 / 03期

关键词：

LRRK2; Parkinson's disease; mutation; Amerindian;

D O I：

10.1016/j.neulet.2007.06.021

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Pathogenic substitutions in the leucine-rich repeat kinase 2 protein (Lrrk2), R1441G and G2019S, area prevalent cause of autosomal dominant and sporadic Parkinson's disease in the Northern Spanish population. In this study we examined the frequency of these two substitutions in 166 Parkinson's disease patients and 153 controls from Chile, a population with Spanish/European-Amerindian admixture. Lrrk2 R1441G was not observed, however Lrrk2 G2019S was detected in one familial and four sporadic Parkinson's disease patients. These findings suggest Lrrk2 G2019S may play an important role in Parkinson's disease on the South American Continent and further studies are now warranted. (c) 2007 Elsevier Ireland Ltd. All rights reserved.

引用

页码：193 / 197

页数：5

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