G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
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DOI：
10.1002/mds.20682
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发表时间：
2005-12-01
影响因子：
8.6
通讯作者：
Singleton, A
中科院分区：
文献类型：
--
作者：
Bras, JM;Guerreiro, RJ;Singleton, A
最近，LRRK2突变在帕金森病家族中被描述出来。在这里，我们显示其中一个(G2019S)在葡萄牙中部基于临床的样本系列中的6%(7/124)无关疾病病例中存在，但在来自同一人群的126名对照中不存在。因此，LRRK2突变似乎是典型帕金森病的常见原因，因此将改变临床实践。(C)2005年运动无序协会。
LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. (c) 2005 Movement Disorder Society.