帕金森病中的LRRK2突变

LRRK2 mutations in Parkinson disease.

作者信息

Farrer M, Stone J, Mata I F, Lincoln S, Kachergus J, Hulihan M, Strain K J, Maraganore D M

机构信息

Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA.

出版信息

Neurology. 2005 Sep 13;65(5):738-40. doi: 10.1212/01.wnl.0000169023.51764.b0.

DOI:10.1212/01.wnl.0000169023.51764.b0

PMID:16157908

Abstract

To determine the frequency of LRRK2 mutations in idiopathic Parkinson disease (PD), the authors studied 786 PD probands, 32 affected siblings, 1,044 unaffected siblings, and 278 unrelated controls. The authors designed allelic discrimination assays for nine LRRK2 mutations and identified these in six probands with PD, one affected sibling, one unaffected sibling, and one unrelated control. Thus LRRK2 mutations only rarely cause idiopathic PD.

摘要

为确定LRRK2突变在特发性帕金森病（PD）中的发生率，作者研究了786例PD先证者、32例患病同胞、1044例未患病同胞以及278例无关对照。作者针对9种LRRK2突变设计了等位基因鉴别分析，并在6例PD先证者、1例患病同胞、1例未患病同胞以及1例无关对照中鉴定出这些突变。因此，LRRK2突变仅很少导致特发性PD。