Article
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.
Journal of the neurological sciences - 15 Feb 2017
Peng Fang, Sun Yi-Min, Chen Chen, Luo Su-Shan, Li Da-Ke, Wang Yi-Xuan, Yang Ke, Liu Feng-Tao, Zuo Chuan-Tao, Ding Zheng-Tong, An Yu, Wu Jian-Jun, Wang Jian
Abstract excerpt
BACKGROUND: Leucine-rich repeat kinase 2 gene (LRRK2) was recognized associated with both familial and sporadic Parkinson Disease (PD). Seven missense mutations (G2019S, R1441C, R1441G, R1441H, Y1699C, I2020T, N1437H) of it have been confirmed disease- causing. They were common among Caucasian PD patients, but rarely reported in Asian, especially in Chinese Han population. OBJECTIVES: We aimed to identify the...
Topics
- Asian People
- China
- Follow-Up Studies
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Mutation
- Parkinson Disease