G2019S LRRK2 mutation in French and North African families with Parkinson's disease
G2019S LRRK2 mutation in French and North African families with Parkinson's disease
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DOI：
10.1002/ana.20636
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发表时间：
2005-11-01
影响因子：
11.2
通讯作者：
Brice, A
中科院分区：
文献类型：
--
作者：
Lesage, S;Ibanez, P;Brice, A
最近在常染色体显性帕金森病 (PD) 中发现了 LRRK2 突变，包括 G2019S 突变。为了评估其频率，我们分析了 198 名常染色体显性 PD 先证者，他们大多来自法国和北非。令人惊讶的是，北非家庭的频率（7/17，41%）高于欧洲家庭（5/174，2.9%）。 21例患者的临床特征为典型PD，其中1例为纯合突变，简易精神状态检查评分较低。还有15名未受影响的突变携带者，年龄在32岁至74岁之间。 LRRK2 突变似乎是常染色体显性 PD 的常见原因，特别是在北非。
Mutations in LRRK2 were recently identified in autosomal dominant Parkinson's disease (PD), including the G2019S mutation. To evaluate its frequency, we analyzed 198 probands with autosomal dominant PD, mostly from France and North Africa. Surprisingly, the frequency in North African families (7/17, 41%) was greater than those from Europe (5/174, 2.9%). The clinical features in 21 patients, including 1 with a homozygous mutation, were those of typical PD, with lower Mini-Mental State Examination scores. There were also 15 unaffected mutation carriers, aged 32 to 74 years. LRRK2 mutations appear to be a common cause of autosomal dominant PD, particularly in North Africa.