Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohort

被引：28
|
作者：
Williams-Gray, CH
Goris, A
Foltynie, T
Brown, J
Maranian, M
Walton, A
Compston, DAS
Sawcer, SJ
Barker, RA
机构：
[1] Univ Cambridge, Cambridge Ctr Brain Repair, Dept Clin Neurosci, Cambridge CB2 2PY, England
[2] Katholieke Univ Leuven, Lab Clin & Expt Neurol, Louvain, Belgium
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2006年 / 77卷 / 05期
基金：
英国医学研究理事会;
关键词：
D O I：
10.1136/jnnp.2005.085019
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The LRRK2 G2019S mutation is the commonest genetic cause of Parkinson's disease (PD) identified to date, although estimates of its prevalence in idiopathic disease vary considerably. Our objectives were to determine G2019S mutation frequency in an unselected, community based cohort of idiopathic PD cases from the UK and to describe phenotypic characteristics among carriers. The mutation was present in two of 519 cases (0.4%) and none of 887 control individuals. The true prevalence of the mutation in idiopathic disease, its penetrance, and the phenotypic heterogeneity of associated cases have important implications for genetic screening in the clinical field.
引用
收藏
页码：665 / 667
页数：3
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