G2019S LRRK2 mutation in French and North African families with Parkinson's disease

被引:158
作者
Lesage, S
Ibanez, P
Lohmann, E
Pollak, P
Tison, F
Tazir, M
Leutenegger, AL
Guimaraes, J
Bonnet, AM
Agid, Y
Dürr, A
Brice, A
机构
[1] Assistance Publ Hop Paris, INSERM, U679, Hop La Pitie Salpetriere, F-75651 Paris, France
[2] CHU Grenoble, Dept Neurol, F-38043 Grenoble, France
[3] Ctr Hosp Univ Bordeaux, Hop Haut Leveque, Serv Neurol, Pessac, France
[4] Ctr Hosp Univ Mustapha, Serv Neurol, Algiers, Algeria
[5] Hosp Egas Moniz, Serv Neurol, Lisbon, Portugal
[6] CHU Pitie Salpetriere, UFR, Assistance Publ Hop Paris, Paris, France
[7] Assistance Publ Hop Paris, Hop La Pitie Salpetriere, Dept Genet Ctyogenet & Embryol, F-75651 Paris, France
关键词
D O I
10.1002/ana.20636
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
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收藏
页码:784 / 787
页数:4
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