LRRK2
疾病
突变
医学
帕金森病
遗传学
内科学
生物
基因
作者
Avi Orr‐Urtreger,C. Shifrin,U. Rozovski,Serena Rosner,Dani Bercovich,Tanya Gurevich,H. Yagev-More,Anat Bar‐Shira,Nir Giladi
出处
期刊:Neurology
[Lippincott Williams & Wilkins]
日期:2007-10-15
卷期号:69 (16): 1595-1602
被引量:154
标识
DOI:10.1212/01.wnl.0000277637.33328.d8
摘要
Our data suggest that the LRRK2 G2019S mutation plays an important role in the causality of familial and sporadic Parkinson disease (PD) in Israel and that gender affects its frequency among patients. Although testing symptomatic patients may help establish the diagnosis of PD, the value of screening asymptomatic individuals remains questionable until the penetrance and age-dependent risk of this mutation are more accurately assessed, and specific disease prevention or modifying interventions become available.
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