The heterozygous R1441C mutation of leucine-rich repeat kinase 2 gene in a Chinese patient with Parkinson disease: A five-year follow-up and literatures review

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• 作者：Fang Peng^a ; ¹ ; Yi-Min Sun^a ; ¹ ; Chen Chen^a ; Su-Shan Luo^a ; Da-Ke Li^a ; Yi-Xuan Wang^a ; Ke Yang^a ; Feng-Tao Liu^a ; Chuan-Tao Zuo^b ; Zheng-Tong Ding^a ; Yu An^c ; Jian-Jun Wu^a ; ^{wujianjun@fudan.edu.cn} ; Jian Wang^a ; ^{wangjian336@hotmail.com}
• 关键词：Parkinson disease ; R1441C mutation ; Leucine-rich repeat kinase 2 gene ; Early-onset PD ; Dopamine transporter imaging ; Positron emission computed tomography
• 刊名：Journal of the Neurological Sciences
• 出版年：2017
• 出版时间：15 February 2017
• 年：2017
• 卷：373
• 期：Complete
• 页码：23-26
• 全文大小：442 K
• 卷排序：373

文摘

Identify pathogenic variants of LRRK2 in Chinese EOPD patients and did find one R1441C mutation. First report of R1441C mutation in China. The patient had been followed up for 5 years and performed PET-DAT twice. R1441C carrying patients were distinguishable from IPD patients.