Essential tremor and the common LRRK2 G2385R variant

被引：15

作者：

Tan, Eng-King ^{[1
,4
]}

Lee, Jasinda

Lim, Hui-Qin

Yuen, Yih ^{[3
]}

Zhao, Yi ^{[2
]}

机构：

[1] Singapore Gen Hosp, Natl Inst Neurosci, Dept Neurol, Singapore 169608, Singapore

[2] Singapore Gen Hosp, Dept Clin Res, Singapore 169608, Singapore

[3] Singapore Gen Hosp, Dept Hlth Screening, Singapore 169608, Singapore

[4] Singapore Gen Hosp, SingHlth Res, Singapore 169608, Singapore

来源：

PARKINSONISM & RELATED DISORDERS | 2008年 / 14卷 / 07期

基金：

英国医学研究理事会;

关键词：

Essential tremor; LRRK2; Variant Polymorphism;

D O I：

10.1016/j.parkreldis.2007.12.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Co-existence of Parkinson's disease (PD) and essential tremor (ET) suggests a possible overlapping pathophysiology between these two conditions. PD patients with leucine-rich repeat kinase-2 (LRRK2) mutations have been reported to present initially with ET A common LRRK2 Gly2385Arg variant has been widely shown to be associated with a two fold increase risk of PD in various Asian populations. We analyzed the Gly2385Arg variant in a cohort of ET and controls. A total of 419 Subjects comprising of 172 ET and 247 controls were included. The mean age, age at onset of ET, and age of control were 52.1 +/- 19.6. 41.8 +/- 21.6. and 62.2 +/- 11.6 years. comprising of 53.0% and 54.3% men, respectively. The Gly2385Arg variant was demonstrated in 5/172 (2.9%) ET patients compared to 10/247 (4.0%) of controls (odds ratio =0.72. 95% CI 0.24. 2.1, p = 0.6). All the Gly2385Arg carriers were heterozygotes. The LRRK2 Gly2385Arg variant is not a significant risk factor for ET in our population. (c) 2008 Elsevier Ltd. All rights reserved.

引用

页码：569 / 571

页数：3

共 29 条

[1] ISOLATED TREMOR AND DISRUPTION OF THE NIGROSTRIATAL DOPAMINERGIC SYSTEM - AN F-18 DOPA PET STUDY [J].