ArticleParkinsonism & related disorders2014
Glucocerebrosidase mutations in primary parkinsonism.
Article in Parkinsonism & related disorders, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Effect of GBA gene variants on clinical characteristics of dementia with Lewy bodies: a review and meta-analyses.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Pooled it
- Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.Movement disorders : official journal of the Movement Disorder Society · 2022Pooled it
- ThemedRxiv : the preprint server for health sciences · 2026Article
- Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.International journal of molecular sciences · 2025Article
- GM1 oligosaccharide-mediated rescue in GBA-linked Parkinson's disease via modulation of lysosomal and mitochondrial dysfunctions.Glycoconjugate journal · 2025Article
- A Global Perspective ofGenes · 2024Review
- Cognitive Effects of Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease with GBA1 Pathogenic Variants.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Mechanisms of Glucocerebrosidase Dysfunction in Parkinson's Disease.Journal of molecular biology · 2023Review
- Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.International journal of molecular sciences · 2023Review
- Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.Movement disorders : official journal of the Movement Disorder Society · 2023Review
- Review
- Glucocerebrosidase mutations and Parkinson disease.Journal of neural transmission (Vienna, Austria : 1996) · 2022Review
- Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.BMC neurology · 2021Article
- The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.Neurology. Genetics · 2020Article
- Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients.Neurogenetics · 2020Article
- Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy.Journal of inherited metabolic disease · 2020Article
- Article
- A metabolomic signature of treated and drug-naïve patients with Parkinson's disease: a pilot study.Metabolomics : Official journal of the Metabolomic Society · 2019Article
- Review
- A Meta-Analysis ofParkinson's disease · 2018Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
introductionMutations in the lysosomal glucocerebrosidase (GBA) gene increase the risk of Parkinson's Disease (PD). We determined the frequency and relative risk of major GBA mutations in a large series of Italian patients with primary parkinsonism.
methodsWe studied 2766 unrelated consecutive patients with clinical diagnosis of primary degenerative parkinsonism (including 2350 PD), and 1111 controls. The entire cohort was screened for mutations in GBA exons 9 and 10, covering approximately 70% of mutations, including the two most frequent defects, p.N370S and p.L444P.
resultsFour known mutations were identified in heterozygous state: 3 missense mutations (p.N370S, p.L444P, and p.D443N), and the splicing mutation IVS10+1G>T, which results in the in-frame exon-10 skipping. Molecular characterization of 2 additional rare variants, potentially interfering with splicing, suggested a neutral effect. GBA mutations were more frequent in PD (4.5%, RR = 7.2, CI = 3.3-15.3) and in Dementia with Lewy Bodies (DLB) (13.8%, RR = 21.9, CI = 6.8-70.7) than in controls (0.63%). but not in the other forms of parkinsonism such as Progressive Supranuclear Palsy (PSP, 2%), and Corticobasal Degeneration (CBD, 0%). Considering only the PD group, GBA-carriers were younger at onset (52 ± 10 vs. 57 ± 10 years, P < 0.0001) and were more likely to have a positive family history of PD (34% vs. 20%, P < 0.001).
conclusionGBA dysfunction is relevant for synucleinopathies, such as PD and DLB, except for MSA, in which pathology involves oligodendrocytes, and the tauopathies PSP and CBD. The risk of developing DLB is three-fold higher than PD, suggesting a more aggressive phenotype.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.