Article
Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters.
Neuro-degenerative diseases - 1 Jan 2020
Lim Shen-Yang, Lim Jia Lun, Ahmad-Annuar Azlina, Lohmann Katja, Tan Ai Huey, Lim Kai Bin, Tay Yi Wen, Shing Yee Lee, Muthusamy Kalai Arasu, Bauer Peter, Rolfs Arndt, Klein Christine
Abstract excerpt
Pathogenic and risk variants in the LRRK2 gene are among the main genetic contributors to Parkinson's disease (PD) worldwide, and LRRK2-targeted therapies for patients with PARK-LRRK2are now entering clinical trials. However, in contrast to the LRRK2 G2019S mutation commonly found in Caucasians, North-African Arabs, and Ashkenazi Jews, relatively little is known about other causative LRRK2 mutations, and data on...
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