SynthesisNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022
Effect of GBA gene variants on clinical characteristics of dementia with Lewy bodies: a review and meta-analyses.
Synthesis in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 2 syntheses or guidelines pooled it, 10 citations in OpenAlex.
- Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2025Pooled it
- Sex differences in alpha-synucleinopathies: a systematic review.Frontiers in neurology · 2023Pooled it
- Understanding the genetic imperfections of Lewy body dementia.Molecular neurodegeneration · 2026Review
- Sex and gender differences in Lewy body dementia: a narrative review.Equity neuroscience · 2025Article
- Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.Biomedicines · 2025Review
- Clinical, neuropathological, and molecular characteristics of rapidly progressive dementia with Lewy bodies: a distinct clinicopathological entity?Alzheimer's research & therapy · 2024Article
- Sex differences in dementia with Lewy bodies: Focused review of available evidence and future directions.Parkinsonism & related disorders · 2023Review
- Review
- Differences in Sex-Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism.Movement disorders : official journal of the Movement Disorder Society · 2022Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
objectivesGlucocerebrosidase (GBA) gene may be a risk factor for dementia with Lewy bodies (DLB). However, due to the small number of existing studies and the small sample size of previous investigations, it is necessary to conduct objective and quantitative analyses of the association between GBA variants and DLB. There is no consensus regarding the relationship between GBA and the clinical characteristics of DLB. Therefore, we conducted multiple systematic reviews and meta-analyses with a particular focus on the age of onset, sex, and cognitive impairment.
methodsPubMed, Cochrane, and EMBASE databases were searched to retrieve related studies. The odds ratios and 95% confidence interval were calculated to determine the association between GBA and DLB and between GBA and the clinical characteristics of DLB.
resultsOur meta-analysis confirmed that the GBA variant rate was significantly higher in the DLB group than in the control group, as were the variant rates of L444P, N370S, and E326K, whereas the variant rate of T369M showed no significant difference between the groups. Furthermore, the relevant literature was summarised again for meta-analyses. The GBA variant group had a younger age of onset and lower Montreal Cognitive Assessment score than the GBA non-variant group in DLB patients. GBA variants do not differ between sexes in DLB patients.
conclusionsGBA variants increased the risk of DLB, especially N370S, E326K, and L444P which are strongly associated with DLB, but T369M was not. Patients harbouring GBA variants have an earlier age of onset, more severe cognitive impairment, and rapid symptom progression; however, sex is irrelevant in DLB.
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Registered trials
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