ArticleMovement disorders : official journal of the Movement Disorder Society2016
GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.
Article in Movement disorders : official journal of the Movement Disorder Society, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers, 4 of them syntheses that pooled it.
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Who cites it
123 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Effects of glucocerebrosidase gene variations on the risk of Parkinson's disease dementia: a meta-analysis.Frontiers in aging neuroscience · 2025Pooled it
- Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.Brain : a journal of neurology · 2023Pooled it
- 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
- Association Between REM Sleep Behavior Disorder and Cognitive Dysfunctions in Parkinson's Disease: A Systematic Review and Meta-Analysis of Observational Studies.Frontiers in neurology · 2020Pooled it
- A Randomized, Double-Blinded, Placebo-Controlled QTc Study to Evaluate BIA 28-6156 Effect on Cardiac Repolarization in Healthy Volunteers.Clinical pharmacology in drug development · 2026Trial
- E326KJournal of Parkinson's disease · 2026Article
- Review
- The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer.Cell death discovery · 2026Review
- Where do PDD and DLB SYNdromes fit in neuronal alpha-SYNuclein biological frameworks?Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Multi-omics insights into GBA1-associated Parkinson's disease: interplay of genomics, transcriptomics, proteomics, and lipidomics.Molecular neurodegeneration · 2026Review
- Neuropathology of Lewy body dementia: Lewy-related pathology, α-synuclein oligomers, and comorbid pathologies.Molecular neurodegeneration · 2025Review
- Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials.NPJ Parkinson's disease · 2025Article
- Synaptic vesicle endocytosis deficits underlie cognitive dysfunction in mouse models of GBA-linked Parkinson's disease and dementia with Lewy bodies.Nature communications · 2025Article
- Progress in Disease-Modifying Therapies for Parkinson's Disease.Aging and disease · 2025Review
- Cholinergic Degeneration and Cognitive Function in Early GBA1-Related Parkinson's Disease.Annals of neurology · 2025Article
- Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.Biomedicines · 2025Review
- Data-driven characterization of distinct cognitive subtypes in Parkinson's disease dementia.NPJ Parkinson's disease · 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
- Gba1 E326K renders motor and non-motor symptoms with pathological α-synuclein, tau and glial activation.Brain : a journal of neurology · 2024Article
- Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2024Review
63 more citing papers are in PubMed but not listed here.
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30 authors.
Funding
Abstract
backgroundLoss-of-function mutations in the GBA gene are associated with more severe cognitive impairment in PD, but the nature of these deficits is not well understood and whether common GBA polymorphisms influence cognitive performance in PD is not yet known.
methodsWe screened the GBA coding region for mutations and the E326K polymorphism in 1,369 PD patients enrolled at eight sites from the PD Cognitive Genetics Consortium. Participants underwent assessments of learning and memory (Hopkins Verbal Learning Test-Revised), working memory/executive function (Letter-Number Sequencing Test and Trail Making Test A and B), language processing (semantic and phonemic verbal fluency), visuospatial abilities (Benton Judgment of Line Orientation), and global cognitive function (MoCA). We used linear regression to test for association between genotype and cognitive performance with adjustment for important covariates and accounted for multiple testing using Bonferroni's corrections.
resultsMutation carriers (n = 60; 4.4%) and E326K carriers (n = 65; 4.7%) had a higher prevalence of dementia (mutations, odds ratio = 5.1; P = 9.7 × 10(-6) ; E326K, odds ratio = 6.4; P = 5.7 × 10(-7) ) and lower performance on Letter-Number Sequencing (mutations, corrected P[Pc ] = 9.0 × 10(-4) ; E326K, Pc = 0.036), Trail Making B-A (mutations, Pc = 0.018; E326K, Pc = 0.018), and Benton Judgment of Line Orientation (mutations, Pc = 0.0045; E326K, Pc = 0.0013).
conclusionsBoth GBA mutations and E326K are associated with a distinct cognitive profile characterized by greater impairment in working memory/executive function and visuospatial abilities in PD patients. The discovery that E326K negatively impacts cognitive performance approximately doubles the proportion of PD patients we now recognize are at risk for more severe GBA-related cognitive deficits.
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