SynthesisMovement disorders : official journal of the Movement Disorder Society2025
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.
Synthesis in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.Movement disorders : official journal of the Movement Disorder Society · 2026Pooled it
- Interplay of GBA1 with lysosomal dysfunction and inflammation in Parkinson's disease.Neural regeneration research · 2026Article
- Glucocerebrosidase dysfunction in GBA1 carriers: insights from blood and macrophage analyses.Molecular biology reports · 2026Article
- Early-Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant.Movement disorders clinical practice · 2026Article
- Genetic and Pathological Testing Attitudes for Parkinson's Disease in At-Risk Relatives.Movement disorders clinical practice · 2026Article
- Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry.Neurology · 2026Article
- Longitudinal Evaluation of Neurological and Sensory Changes in Gaucher Disease: A Prospective Observational Cohort Study (SENOPRO).Medical sciences (Basel, Switzerland) · 2026Observational
- Real-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China.Journal of clinical medicine · 2026Article
- Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration.Molecular neurodegeneration · 2026Article
- Timing of device-aided therapy initiation in Parkinson's disease: reference estimates for healthcare planning and biological heterogeneity.Clinical parkinsonism & related disorders · 2026Article
- Analyzing the 'bradykinesia complex' in GBA1-associated Parkinson's disease: A series of three cases.Clinical parkinsonism & related disorders · 2026Article
- RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- How many do we miss? - Evaluation of age at onset and family history as selection criteria for genetic testing in Parkinson's disease.medRxiv : the preprint server for health sciences · 2025Article
- Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.International journal of molecular sciences · 2025Article
- Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 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
- 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
Corrections and comments
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Authors and funding
16 authors.
Funding
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Abstract
Depending on zygosity and the specific change, different variants in the GBA1 gene can cause Parkinson's disease (PD, PARK-GBA1) with reduced penetrance, act as genetic risk factors for PD or parkinsonism, and/or lead to Gaucher's disease (GD). This MDSGene systematic literature review covers 27,963 patients carrying GBA1 variants from 1082 publications with 794 variants, including 13,342 patients with PD or other forms of parkinsonism. It provides a comprehensive overview of demographic, clinical, and genetic findings from an ethnically diverse sample originating from 82 countries across five continents. The most frequent pathogenic or likely pathogenic variants were "N409S" (aka "N370S"; dominating among Jewish and Whites), and "L483P" (aka "L444P"; dominating among Asians and Hispanics), whereas the most common coding risk variants were "E365K" (E326K), and "T408M" (T369M) (both common among Whites). A novel finding is that early-onset PD patients were predominantly of Asian ethnicity, whereas late-onset PD patients were mainly of White ethnicity. Motor cardinal features were similar between PD patients and other forms of parkinsonism, whereas motor complications and non-motor symptoms were more frequently reported in PD patients carrying "severe" variants than in those with "risk" or "mild" variants. Cognitive decline was reported in most patients after surgical treatment, despite achieving a beneficial motor function response. Most GD patients developing PD harbored the "N409S" variant, were of Ashkenazi Jewish ethnicity, and showed a positive response to chronic levodopa treatment. With this review, we start to fill the gaps regarding genotype-phenotype correlations in GBA1 variant carriers, especially concerning PD. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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