Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian

被引：36

作者：

Belin, Andrea Carmine

Westerlund, Marie

Sydow, Olof

Lundstromer, Karin

Hakansson, Anna

Nissbrandt, Hans

Olson, Lars

Galter, Dagmar

机构：

[1] Karolinska Inst, Dept Neurosci, S-17177 Stockholm, Sweden

[2] Karolinska Univ Hosp, Dept Clin Neurosci, Neurol Sect, Stockholm, Sweden

[3] Gothenburg Univ, Sahlgrenska Acad, Dept Pharmacol, Gothenburg, Sweden

来源：

MOVEMENT DISORDERS | 2006年 / 21卷 / 10期

关键词：

Parkinson's disease; mutation; Sweden; LRRK2; sporadic; penetrance;

D O I：

10.1002/mds.21016

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Specific variants of Leucine-rich repeat kinase 2 (LRRK2) have been shown to associate with Parkinson's disease (PD). Several mutations have been found in PD populations from different parts of the world. We investigated the occurrence of three mutations (R1441G/C/H, G2019S, and I2020T) in our Swedish case-control material and identified four carriers of the G2019S mutation in 284 PD cases and 1 95-year-old carrier in 305 controls. The other two variants were absent in our material. We conclude that the LRRK2 G2019S mutation constitutes a significant factor for PD in the Swedish population and that it is not completely penetrant. (C) 2006 Movement Disorder Society.

引用

页码：1731 / 1734

页数：4

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