ArticleMovement disorders : official journal of the Movement Disorder Society2022
Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity.
Article in Movement disorders : official journal of the Movement Disorder Society, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 35 citations in OpenAlex.
- Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Glucocerebrosidase dysfunction in GBA1 carriers: insights from blood and macrophage analyses.Molecular biology reports · 2026Article
- Progression ofFrontiers in aging neuroscience · 2026Article
- Research progress on the α-synuclein-lysosome axis in Parkinson's disease: molecular mechanisms of protein aggregation, autophagy dysfunction, and therapeutic targeting.Frontiers in neuroscience · 2026Review
- Interferon gamma stimulates coordinated changes in LRRK2, GCase, and cathepsin activities in idiopathic and genetic Parkinson's disease monocytes.NPJ Parkinson's disease · 2025Article
- p.N370SInternational journal of molecular sciences · 2025Article
- Relationship of cognitive decline with glucocerebrosidase activity and amyloid-beta 42 in DLB and PD.Annals of clinical and translational neurology · 2025Article
- The effect of polygenic risk score on PD risk and phenotype inJournal of Parkinson's disease · 2025Article
- Migraine Genetic Susceptibility Does Not Strongly Influence Migraine Characteristics and Outcomes in a Treated, Real-World, Community Cohort.Journal of clinical medicine · 2025Article
- Comparative analysis of methods for measuring glucocerebrosidase enzyme activity in patients with Parkinson's disease with theFrontiers in neurology · 2025Article
- An Integrative Migraine Polygenic Risk Score Is Associated with Age at Onset But Not Chronification.Journal of clinical medicine · 2024Article
- Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.Translational neurodegeneration · 2024Review
- Review
- Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- Quantitative dopamine transporter imaging assessment in Parkinson's disease patients carrying GBA gene mutations compared with idiopathic PD patients: A case-control study.Brain and behavior · 2023Article
- A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.NPJ Parkinson's disease · 2023Article
- Who is at Risk of Parkinson Disease? Refining the Preclinical Phase of GBA1 and LRRK2 Variant Carriers: a Clinical, Biochemical, and Imaging Approach.Current neurology and neuroscience reports · 2023Review
- Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370SInternational journal of molecular sciences · 2023Article
- Association of CSF Glucocerebrosidase Activity With the Risk of Incident Dementia in Patients With Parkinson Disease.Neurology · 2023Article
- Review
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Authors and funding
15 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the GBA gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are risk factors for Parkinson's disease (PD).
objectiveTo explore the association between GCase activity, PD phenotype, and probability for prodromal PD among carriers of mutations in the GBA and LRRK2 genes.
methodsParticipants were genotyped for the G2019S-LRRK2 and nine GBA mutations common in Ashkenazi Jews. Performance-based measures enabling the calculation of the Movement Disorder Society (MDS) prodromal probability score were collected.
resultsOne hundred and seventy PD patients (102 GBA-PD, 38 LRRK2-PD, and 30 idiopathic PD) and 221 non-manifesting carriers (NMC) (129 GBA-NMC, 45 LRRK2-NMC, 15 GBA-LRRK2-NMC, and 32 healthy controls) participated in this study. GCase activity was lower among GBA-PD (3.15 ± 0.85 μmol/L/h), GBA-NMC (3.23 ± 0.91 μmol/L/h), and GBA-LRRK2-NMC (3.20 ± 0.93 μmol/L/h) compared to the other groups of participants, with no correlation to clinical phenotype.
conclusionsLow GCase activity does not explain the clinical phenotype or risk for prodromal PD in this cohort. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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