Article
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.
Journal of neural transmission (Vienna, Austria : 1996) - 1 Jan 2022
Lim Jia Lun, Lohmann Katja, Tan Ai Huey, Tay Yi Wen, Ibrahim Khairul Azmi, Abdul Aziz Zariah, Mawardi Ahmad Shahir, Puvanarajah Santhi Datuk, Lim Thien Thien, Looi Irene, Ooi Joshua Chin Ern, Chia Yuen Kang, Muthusamy Kalai Arasu, Bauer Peter, Rolfs Arndt, Klein Christine, Ahmad-Annuar Azlina, Lim Shen-Yang
Abstract excerpt
GBA variants are associated with increased risk and earlier onset of Parkinson's disease (PD), and more rapid disease progression especially with "severe" variants typified by p.L483P. GBA mutation screening studies from South-East Asia, with > 650 million inhabitants of diverse ancestries, are very limited. We investigated the spectrum of GBA variants, and associated clinico-demographic features, in a...
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