G2019S 达旦宁替代是葡萄牙队列中帕金森病的常见病因。
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
作者信息
Bras Jose Miguel, Guerreiro Rita Joao, Ribeiro Maria Helena, Januario Cristina, Morgadinho Ana, Oliveira Catarina Resende, Cunha Luis, Hardy John, Singleton Andrew
机构信息
Neurology Service, Coimbra University Hospital, Coimbra, Portugal.
出版信息
Mov Disord. 2005 Dec;20(12):1653-5. doi: 10.1002/mds.20682.
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.
LRRK2突变最近在帕金森病家族中被发现。在此我们表明，其中一种突变（G2019S）在来自葡萄牙中部基于临床样本系列的124例无亲缘关系的帕金森病患者中占6%（7例），但在来自同一人群的126名对照中未出现。因此，LRRK2突变似乎是典型帕金森病的常见病因，并且会因此改变临床实践。
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