Evidence map›Paper›PMID 36598340›Full record

ReviewMovement disorders : official journal of the Movement Disorder Society2023

Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.

Sitki Cem Parlar, Francis P Grenn, Jonggeol Jeffrey Kim, Cornelis Baluwendraat, Ziv Gan-Or

Open access · greenAbstract readReview
In one paragraph

Review in Movement disorders : official journal of the Movement Disorder Society, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
76citing papers in PubMed, 2 pooled it
17.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

76 citing papers in PubMed, 2 syntheses or guidelines pooled it, 100 citations in OpenAlex.

  1. GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.Movement disorders : official journal of the Movement Disorder Society · 2026
    Pooled it
  2. Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2025
    Pooled it
  3. Article
  4. Does genetic testing remain relevant in advanced Parkinson's disease?Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  5. Article
  6. Article
  7. Article
  8. Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  9. E326KJournal of Parkinson's disease · 2026
    Article
  10. Article
  11. Journal of Parkinson's disease · 2026
    Review
  12. Clinical Trials in GBA1-Associated Parkinson's Disease: A Need for Molecular Classification.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  13. Article
  14. Article
  15. Article
  16. Sphingolipidoses: expanding the spectrum of α-synucleinopathies.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  17. Article
  18. Observational
  19. Article
  20. Article

16 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 4 institutions in 3 countries.

Sitki Cem ParlarDepartment of Human Genetics, McGill University, Montréal, Québec, Canada.
Francis P GrennLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
Jonggeol Jeffrey KimLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
Cornelis BaluwendraatLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.ORCID 0000-0001-9358-8111
Ziv Gan-OrDepartment of Human Genetics, McGill University, Montréal, Québec, Canada.ORCID 0000-0003-0332-234X
Montreal Neurological Institute and Hospital · CANational Institute on Aging · USNational Institutes of Health · USQueen Mary University of London · GB

Funding

Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Intramural NIH HHS ZIA AG000949
6 · The paper itself

Abstract

backgroundGBA1 variants are among the most common genetic risk factors for Parkinson's disease (PD). GBA1 variants can be classified into three categories based on their role in Gaucher's disease (GD) or PD: severe, mild, and risk variant (for PD).

objectiveThis review aims to generate and share a comprehensive database for GBA1 variants reported in PD to support future research and clinical trials.

methodsWe performed a literature search for all GBA1 variants that have been reported in PD. The data have been standardized and complemented with variant classification, odds ratio if available, and other data.

resultsWe found 371 GBA1 variants reported in PD: 22 mild, 84 severe, 3 risk variants, and 262 of unknown status. We created a browser containing up-to-date information on these variants (https://pdgenetics.shinyapps.io/GBA1Browser/).

conclusionsThe classification and browser presented in this work should inform and support basic, translational, and clinical research on GBA1-PD. © 2023 International Parkinson and Movement Disorder Society.

Indexed as

Gaucher DiseaseParkinson DiseaseGlucosylceramidaseHumansMutationGlucosylceramidaseGBAGBA1geneticsParkinson's disease

Identifiers

PMID36598340
PMCPMC10033371
OpenAlexW4313488624

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.