Evidence map›Paper›PMID 37302978›Full record

ArticleJournal of movement disorders2023

GBA1 Variants and Parkinson's Disease: Paving the Way for Targeted Therapy.

Young Eun Huh, Tatiana Usnich, Clemens R Scherzer, Christine Klein, Sun Ju Chung

Open access · diamondAbstract read
In one paragraph

Article in Journal of movement disorders, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 3 pooled it
6.1field-weighted citation impact, top 3% 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

33 citing papers in PubMed, 3 syntheses or guidelines pooled it, 35 citations in OpenAlex.

  1. Pooled it
  2. 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
  3. Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2025
    Pooled it
  4. Does genetic testing remain relevant in advanced Parkinson's disease?Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  5. Article
  6. Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients.medRxiv : the preprint server for health sciences · 2026
    Article
  7. Article
  8. Review
  9. Genetic and environmental risk factors of Parkinsonism.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  10. Article
  11. Article
  12. Article
  13. ThemedRxiv : the preprint server for health sciences · 2026
    Article
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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.

Young Eun HuhDepartment of Neurology, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
Tatiana UsnichInstitute of Neurogenetics, University of Lübeck and University Hospital of Schleswig-Holstein, Lübeck, Germany.
Clemens R ScherzerAdvanced Center for Parkinson's Disease Research, Harvard Medical School, Brigham and Women's Hospital, Boston, MA, USA.
Christine KleinInstitute of Neurogenetics, University of Lübeck and University Hospital of Schleswig-Holstein, Lübeck, Germany.
Sun Ju ChungDepartment of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
University of Lübeck · DEBrigham and Women's Hospital · USCHA University Bundang Medical Center · KRUlsan College · KR

Funding

Genome-Wide Prediction of Dementia in Parkinson's DiseaseR01NS115144 · NINDS · YALE UNIVERSITY · PI SCHERZER, CLEMENS R · 2019 to 2025
$4.4M
Asan Institute for Life Sciences, Asan Medical Center 2022IT0012Ministry of Science and ICTNational Research Foundation of Korea 2021R1C1C1010753
6 · The paper itself

Abstract

Glucosylceramidase beta 1 (GBA1) variants have attracted enormous attention as the most promising and important genetic candidates for precision medicine in Parkinson's disease (PD). A substantial correlation between GBA1 genotypes and PD phenotypes could inform the prediction of disease progression and promote the development of a preventive intervention for individuals at a higher risk of a worse disease prognosis. Moreover, the GBA1-regulated pathway provides new perspectives on the pathogenesis of PD, such as dysregulated sphingolipid metabolism, impaired protein quality control, and disrupted endoplasmic reticulum-Golgi trafficking. These perspectives have led to the development of novel disease-modifying therapies for PD targeting the GBA1-regulated pathway by repositioning treatment strategies for Gaucher's disease. This review summarizes the current hypotheses on a mechanistic link between GBA1 variants and PD and possible therapeutic options for modulating GBA1-regulated pathways in PD patients.

Indexed as

Autophagy lysosomal pathwayER-Golgi traffickingGBA1Parkinson’s diseaseSphingolipidβ-glucocerebrosidase

Identifiers

PMID37302978
PMCPMC10548077
OpenAlexW4380271733

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.