Substantia nigra hyperechogenicity in Parkinson disease patients with leucine-rich repeat kinase 2 variants in the Chinese Han population  

作　　者：Kai Li Chen-Chen Gu Jin-Ru Zhang Hong Jin Yi-Lun Ge Jing Chen Ya-Ping Yang Fen Wang Cheng-Jie Mao Ying-Chun Zhang Chun-Feng Liu 

机构地区：[1]Department of Neurology and Suzhou Clinical Research Center of Neurological Disease,The Second Affiliated Hospital of Soochow University,Suzhou,Jiangsu 215004,China [2]Department of Neurology,The Sixth People’s Hospital of Nantong,Nantong,Jiangsu 226000,China [3]Jiangsu Key Laboratory of Neuropsychiatric Diseases and Institute of Neuroscience,Soochow University,Suzhou,Jiangsu 215000,China [4]Department of Ultrasound,The Second Affiliated Hospital of Soochow University,Suzhou,Jiangsu 215004,China

出　　处：《Chinese Medical Journal》2020年第12期1483-1484,共2页中华医学杂志（英文版）

基　　金：This work was supported by grants from the National Key R&D Program of China(No.2017YFC0909100);the National Natural Science Foundation of China(No.81801120);the Initial Scientific Research Fund at the Second Affiliated Hospital of Soochow University(No.SDFEYBS1702);Jiangsu Provincial Medical Key Discipline Project(No.ZDXKB2016022);Jiangsu Provincial social development projects(No.BE2018658 and BE2017653);Suzhou Clinical Research Center of Neurological Disease(No.Szzx201503).

摘　　要：To the Editor:Parkinson disease(PD)is the second most common neurodegenerative disease,and is characterized by both motor and non-motor symptoms.The leucine-rich repeat kinase 2(LRRK2)gene,characterized by different mutations among different populations,is well-known in both familial and sporadic PD.The frequency of theG2019S mutation is 20%to 40%in the Ashkenazi Jewish and North African Arab populations,while G2385R is a common risk factor associated with Asian populations.Research teams have found that G2385R is also associated with PD in the Chinese Han population,suggesting a clear contribution of this mutation to the Han population,but descriptions of clinical PD symptoms in the Chinese Han population are rare and warrant further G2385R genotype-phenotype analyses.

关 键 词：PATIENTS CLINICAL MUTATION 

分 类 号：R742.5[医药卫生—神经病学与精神病学]