帕金森病的流行病学、环境危险因素及遗传学
Epidemiology, environmental risk factors and genetics of Parkinson's disease.
作者信息
Delamarre Anna, Meissner Wassilios G
机构信息
CHU de Bordeaux, hôpital Pellegrin, service de neurologie, 33000 Bordeaux, France.
CHU de Bordeaux, hôpital Pellegrin, service de neurologie, 33000 Bordeaux, France; CHU de Bordeaux, hôpital Pellegrin, centre de référence maladie rare AMS, 33076 Bordeaux, France; University de Bordeaux, Institut des Maladies Neurodégénératives, UMR 5293, 33000 Bordeaux, France; Institut des maladies neurodégénératives, UMR 5293, CNRS, 33000 Bordeaux, France.
出版信息
Presse Med. 2017 Mar;46(2 Pt 1):175-181. doi: 10.1016/j.lpm.2017.01.001. Epub 2017 Feb 8.
Parkinson's disease (PD) is a frequent neurodegenerative disease with a premotor phase that lasts several years. Risk factors that have been linked to PD are tobacco, caffeine, black tea, pesticides and calcium channel blockers. Some risk factors may be due to inverse causality (e.g. changes in personality during the premotor phase). The genetics of PD are complex with a contribution of Mendelian (e.g. SNCA, LRRK2, Parkin, Pink1,…) and non-Mendelian factors (e.g. single nucleotide polymorphisms). Glucocerebrosidase gene mutations (Gaucher disease) are currently the strongest genetic risk factor for PD. Studying risk factors will help to better understand the pathogenesis of PD.
帕金森病（PD）是一种常见的神经退行性疾病，其运动前期可持续数年。与帕金森病相关的风险因素包括烟草、咖啡因、红茶、杀虫剂和钙通道阻滞剂。一些风险因素可能是由于因果倒置（例如运动前期的性格变化）。帕金森病的遗传学很复杂，有孟德尔因素（如SNCA、LRRK2、Parkin、Pink1等）和非孟德尔因素（如单核苷酸多态性）的作用。葡萄糖脑苷脂酶基因突变（戈谢病）目前是帕金森病最强的遗传风险因素。研究风险因素将有助于更好地理解帕金森病的发病机制。
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