ArticleMovement disorders : official journal of the Movement Disorder Society2020
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
Article in Movement disorders : official journal of the Movement Disorder Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 3 of them syntheses that pooled it.
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43 citing papers in PubMed, 3 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Association of gender and age at onset with glucocerebrosidase associated Parkinson's disease: a systematic review and meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2021Pooled it
- Interplay of GBA1 with lysosomal dysfunction and inflammation in Parkinson's disease.Neural regeneration research · 2026Article
- Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Article
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- ThemedRxiv : the preprint server for health sciences · 2026Article
- Modelling cholinergic and dopaminergic function over time in Parkinson's disease with and without GBA1 variants.NPJ Parkinson's disease · 2025Article
- C-terminus-dependent detection of lysosomal alpha-synuclein in nigral Parkinson's disease human brain neurons.Molecular neurodegeneration · 2025Article
- Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Cholinergic Degeneration and Cognitive Function in Early GBA1-Related Parkinson's Disease.Annals of neurology · 2025Article
- PGRN as an emerging regulator of lipid metabolism in neurodegenerative diseases.Communications biology · 2025Review
- Obstacles to Early Diagnosis of Gaucher Disease.Therapeutics and clinical risk management · 2025Review
- Case Report: Practical approach to differentiating juvenile parkinsonism of genetic cause and drug-induced parkinsonism in adolescents: a case series and literature review.Frontiers in genetics · 2025Article
- A Global Perspective ofGenes · 2024Review
- Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.Brain : a journal of neurology · 2024Observational
- Review
- Article
- IsmedRxiv : the preprint server for health sciences · 2024Article
- Cholinergic innervation topography in GBA-associated de novo Parkinson's disease patients.Brain : a journal of neurology · 2024Article
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Authors and funding
23 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe most common genetic risk factor for Parkinson's disease known is a damaging variant in the GBA1 gene. The entire GBA1 gene has rarely been studied in a large cohort from a single population. The objective of this study was to assess the entire GBA1 gene in Parkinson's disease from a single large population.
methodsThe GBA1 gene was assessed in 3402 Dutch Parkinson's disease patients using next-generation sequencing. Frequencies were compared with Dutch controls (n = 655). Family history of Parkinson's disease was compared in carriers and noncarriers.
resultsFifteen percent of patients had a GBA1 nonsynonymous variant (including missense, frameshift, and recombinant alleles), compared with 6.4% of controls (OR, 2.6; P < 0.001). Eighteen novel variants were detected. Variants previously associated with Gaucher's disease were identified in 5.0% of patients compared with 1.5% of controls (OR, 3.4; P < 0.001). The rarely reported complex allele p.D140H + p.E326K appears to likely be a Dutch founder variant, found in 2.4% of patients and 0.9% of controls (OR, 2.7; P = 0.012). The number of first-degree relatives (excluding children) with Parkinson's disease was higher in p.D140H + p.E326K carriers (5.6%, 21 of 376) compared with p.E326K carriers (2.9%, 29 of 1014); OR, 2.0; P = 0.022, suggestive of a dose effect for different GBA1 variants.
conclusionsDutch Parkinson's disease patients display one of the largest frequencies of GBA1 variants reported so far, consisting in large part of the mild p.E326K variant and the more severe Dutch p.D140H + p.E326K founder allele. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC. on behalf of International Parkinson and Movement Disorder Society.
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