Research Unit UMR 1127, Sorbonne University, Paris, France.
Research Unit U1127, National Institute of Health and Medical Research, Paris, France.
Ann Neurol. 2020 Oct;88(4):843-850. doi: 10.1002/ana.25787. Epub 2020 Jul 28.
Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1,587 cases. Mutations were found in 14.1% of patients; 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians, whereas PINK1 mutations predominated in Arab-Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. ANN NEUROL 2020;88:843-850.
现在，针对帕金森病的基因靶向治疗方法已经进入临床试验阶段，因此需要对罕见遗传形式的帕金森病的表型和人群分布进行研究。我们评估了 1587 例患者中 PRKN、PINK1 和 DJ-1 突变的频率。在患者中发现了 14.1%的突变；27.6%为家族性，8%为散发性。PRKN 是在白种人中最常发生突变的基因，而 PINK1 突变在阿拉伯-柏柏尔人群中更为常见。与无突变者相比，PRKN 突变患者的发病年龄更早，运动并发症、自主神经功能障碍和痴呆的非对称性、左旋多巴诱导的运动并发症更少。神经病学，2020 年；88：843-850.
