Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: Mutational spectrum and clinical features

• Main Authors: Lim, Jia Lun, Lohmann, Katja, Tan, Ai Huey, Tay, Yi Wen, Ibrahim, Khairul Azmi, Aziz, Zariah Abdul, 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
• Format: Article
• Published: Springer Wien 2022
• Subjects: R Medicine; R Medicine (General); RA Public aspects of medicine; RC Internal medicine; RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
• Online Access: http://eprints.um.edu.my/33696/

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...