ArticleJournal of neural transmission (Vienna, Austria : 1996)2022
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.
Article in Journal of neural transmission (Vienna, Austria : 1996), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Breaking barriers and fighting inequality in Parkinson's disease care: Personal reflections of movement disorders clinicians.Journal of Parkinson's disease · 2026Article
- Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant.Movement disorders clinical practice · 2026Article
- Exploring the Involvement of PINK1 in Parkinson's Disease: A Scanning Tunnelling Microscopy Study of Electron Transfer in Synthetic DNA Samples.The Malaysian journal of medical sciences : MJMS · 2025Article
- New insights from a Malaysian real-world deep brain stimulation cohort.Journal of Parkinson's disease · 2025Article
- Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.Nature aging · 2025Article
- Distinctive cognitive phenotypes in Parkinson's disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study.Clinical parkinsonism & related disorders · 2025Article
- A Global Perspective ofGenes · 2024Review
- Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2024Review
- Biomarkers of neurodegeneration across the Global South.The lancet. Healthy longevity · 2024Review
- Towards a Global View of Parkinson's Disease Genetics.Annals of neurology · 2024Review
- Genetic Testing for Parkinson's Disease and Movement Disorders in Less Privileged Areas: Barriers and Opportunities.Movement disorders clinical practice · 2024Article
- Parkinson's Disease is Predominantly a Genetic Disease.Journal of Parkinson's disease · 2024Review
- The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.Genes · 2023Review
- Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.NPJ Parkinson's disease · 2023Article
- Mechanisms of Glucocerebrosidase Dysfunction in Parkinson's Disease.Journal of molecular biology · 2023Review
- Parkinson's disease in a patient with GBA and LRRK2 covariants after acute hypoxic insult: a case report.BMC neurology · 2023Article
- Genetic Movement Disorders Commonly Seen in Asians.Movement disorders clinical practice · 2023Review
- The Frequency of Korean Patients With Parkinson's Disease Carrying GBA Mutations in a Subgroup With Age at Onset ≤ 55 Years Old.Journal of movement disorders · 2023Article
- Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.Brain and behavior · 2023Article
- Review
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18 authors.
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Abstract
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 (< 50 years) vs. late-onset patients across all three ethnicities (9.1-13.2% vs. 1.0-3.2%). The most common variant was p.L483P (including RecNciI, n = 11, 2.2%), detected in all three ethnicities. Three novel variants/recombinant alleles of uncertain significance were found; p.P71L, p.L411P, and p.L15S(;)S16G(;)I20V. The common European risk variants, p.E365K, p.T408M, and p.N409S, were not detected. A severe disease course was noted in the majority of GBA-variant carriers, across a range of detected variants. We report a potentially novel observation of spine posture abnormalities in GBA-variant carriers. This represents the largest study on GBA variation from South-East Asia, and highlights that these populations, especially those with EOPD, would be relevant for studies including clinical trials targeting GBA pathways.
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