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

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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.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 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).
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