LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease.
LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease.
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DOI：
10.1155/2017/2412486
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Regragui W
中科院分区：
文献类型：
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作者：
Bouhouche A;Tibar H;Ben El Haj R;El Bayad K;Razine R;Tazrout S;Skalli A;Bouslam N;Elouardi L;Benomar A;Yahyaoui M;Regragui W
背景LRRK2 G2019S突变是迄今为止发现的帕金森病（PD）最常见的遗传决定因素。这种突变，在家族性和散发性PD报告，发生在马格里布人口的频率升高。在本研究中，我们检查了摩洛哥人群中G2019S突变的患病率，并比较了G2019S携带者与特发性帕金森病患者的运动和非运动表型。方法.对100例PD患者的运动和非运动症状、当前药物和运动并发症（包括运动波动和运动障碍）进行了评估。通过直接测序在患者和种族匹配的对照中研究LRRK2 G2019S突变，所有患者均为摩洛哥血统。结果在100名PD摩洛哥患者中，41名（41%）为G2019S突变携带者。常染色体显性遗传先证者的突变频率（76%）高于散发先证者（28%）。有趣的是，G2019S突变也在5%的对照个体中发现。临床上，携带G2019S突变的患者比非携带者有更多的肌张力障碍（OR = 4.6，p = 0.042）和睡眠障碍（OR = 2.4，p = 0.045）。结论.摩洛哥的LRRK2 G2019 S患病率是迄今为止报告的世界上最高的。G2019S携带者的一些临床特征，如肌张力障碍和睡眠障碍值得注意。
Background. The LRRK2 G2019S mutation is the most common genetic determinant of Parkinson's disease (PD) identified to date. This mutation, reported in both familial and sporadic PD, occurs at elevated frequencies in Maghreb population. In the present study, we examined the prevalence of the G2019S mutation in the Moroccan population and we compared the motor and nonmotor phenotype of G2019S carriers to patients with idiopathic Parkinson's disease. Methods. 100 PD patients were assessed for motor and nonmotor symptoms, current medication, and motor complication including motor fluctuations and dyskinesia. The LRRK2 G2019S mutation was investigated by direct sequencing in patients and ethnically matched controls, all of Moroccan origin. Results. Among the 100 PD Moroccan patients, 41 (41%) were carriers of the G2019S mutation. The mutation frequency was higher among probands with autosomal dominant inheritance (76%) than among sporadic ones (28%). Interestingly, G2019S mutation was also found in 5% of control individuals. Clinically, patients carrying the G2019S mutation have more dystonia (OR = 4.6, p = 0.042) and more sleep disorders (OR = 2.4, p = 0.045) than noncarriers. Conclusions. The LRRK2 G2019S prevalence in Morocco is the highest in the world reported to date. Some clinical features in G2019S carriers such as dystonia and sleep disturbances are worth noting.