Article
Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan.
Journal of human genetics - 1 Sept 2020
Li Yuanzhe, Ikeda Aya, Yoshino Hiroyo, Oyama Genko, Kitani Mitsuhiro, Daida Kensuke, Hayashida Arisa, Ogaki Kotaro, Yoshida Kousuke, Kimura Takashi, Nakayama Yoshiaki, Ito Hidefumi, Sugeno Naoto, Aoki Masashi, Miyajima Hiroaki, Kimura Katsuo, Ueda Naohisa, Watanabe Masao, Urabe Takao, Takanashi Masashi, Funayama Manabu, Nishioka Kenya, Hattori Nobutaka
Abstract excerpt
Variants of leucine-rich repeat kinase 2 (LRRK2) are the most common genetic cause of familial Parkinson's disease (PD). We aimed to investigate the genetic and clinical features of patients with PD and LRRK2 variants in Japan by screening for LRRK2 variants in three exons (31, 41, and 48), which include the following pathogenic mutations: p.R1441C, p.R1441G, p.R1441H, p.G2019S, and p.I2020T. Herein, we obtained...
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