LRRK2
先证者
兄弟姐妹
帕金森病
疾病
遗传学
突变
医学
等位基因
生物
内科学
心理学
基因
发展心理学
作者
Matthew J. Farrer,Jason Stone,Ignácio F. Mata,S. Lincoln,Jennifer M. Kachergus,Mary Hulihan,Kari J. Strain,Demetrius M. Maraganore
出处
期刊:Neurology
[Lippincott Williams & Wilkins]
日期:2005-09-13
卷期号:65 (5): 738-740
被引量:153
标识
DOI:10.1212/01.wnl.0000169023.51764.b0
摘要
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.
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