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

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 v...

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Veröffentlicht in:Journal of Neural Transmission 2022, Vol.129 (1), p.37-48
Hauptverfasser: 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
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Sprache:eng
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Zusammenfassung: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 multi-ethnic PD cohort in Malaysia. Patients ( n  = 496) were recruited from seven centres, primarily of Chinese (45%), Malay (37%), and Indian (13%) ethnicities. All GBA coding exons were screened using a next-generation sequencing-based PD gene panel and verified with Sanger sequencing. We identified 14 heterozygous GBA alleles consisting of altogether 17 missense variants (8 classified as pathogenic or likely pathogenic for PD) in 25 (5.0%) patients, with a substantially higher yield among early (
ISSN:0300-9564
1435-1463
DOI:10.1007/s00702-021-02421-0