突尼斯和挪威的LRRK2帕金森综合征：疾病外显率的比较分析
LRRK2 parkinsonism in Tunisia and Norway: a comparative analysis of disease penetrance.
作者信息
Hentati Faycel, Trinh Joanne, Thompson Christina, Nosova Ekaterina, Farrer Matthew J, Aasly Jan O
机构信息
From Institut National Mongi Ben Hamida de Neurologie (F.H.), La Rabta, Tunis, Tunisia; the University of British Columbia (J.T., C.T., E.N., M.J.F.), Vancouver; and St. Olav's Hospital (J.O.A.), Norwegian University of Science and Technology, Trondheim, Norway.
出版信息
Neurology. 2014 Aug 5;83(6):568-9. doi: 10.1212/WNL.0000000000000675. Epub 2014 Jul 9.
Abstract
In recent years, the molecular etiology of parkinsonism has yielded to genetic analysis. Mutations in the gene leucine-rich repeat kinase 2 () have the highest genotypic and population attributable risk. Disparate penetrance estimates have been reported using a variety of statistical analyses, ethnic populations, and sample sizes. We compared the age-associated cumulative incidence (penetrance) of p.G2019S patients from Tunisia and Norway.
摘要
近年来，帕金森综合征的分子病因已可通过基因分析揭示。富含亮氨酸重复激酶2（LRRK2）基因的突变具有最高的基因型和人群归因风险。使用各种统计分析、种族人群和样本量，已报告了不同的外显率估计值。我们比较了来自突尼斯和挪威的LRRK2基因p.G2019S突变患者的年龄相关累积发病率（外显率）。
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