Evidence map›Paper›PMID 39258449›Full record

ReviewMovement disorders : official journal of the Movement Disorder Society2024

Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.

Sophia R L Vieira, Roxana Mezabrovschi, Marco Toffoli, Sara Lucas Del Pozo, Elisa Menozzi, Stephen Mullin, Selen Yalkic, Naomi Limbachiya, Sofia Koletsi, Nadine Loefflad and 5 more

Abstract readReviewConsensus Statement
In one paragraph

Review in Movement disorders : official journal of the Movement Disorder Society, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

14 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Genetic Landscape of Monogenic Parkinson's Disease in the African Population-A Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2026
    Pooled it
  2. Article
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  5. Review
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  7. Clinical Utility ofGenes · 2026
    Review
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  14. Exploring the relationship betweenFrontiers in neuroscience · 2025
    Article
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

15 authors.

Sophia R L VieiraDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.ORCID https://orcid.org/0000-0001-8473-4084
Roxana MezabrovschiDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.
Marco ToffoliDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.ORCID https://orcid.org/0000-0002-3255-9648
Sara Lucas Del PozoDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.ORCID https://orcid.org/0000-0002-5431-8204
Elisa MenozziDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.ORCID https://orcid.org/0000-0003-3565-7910
Stephen MullinDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.
Selen YalkicDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.
Naomi LimbachiyaDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.
Sofia KoletsiDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.
Nadine LoeffladDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.
Grisel J LopezMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Ziv Gan-OrDepartment of Neurology and Neurosurgery, The Neuro (Montreal Neurological Institute-Hospital), and Department of Human Genetics, McGill University, Montreal, Quebec, Canada.ORCID https://orcid.org/0000-0003-0332-234X
Roy N AlcalayColumbia University Irving Medical Center, New York, New York, USA.
Ellen SidranskyAligning Science Across Parkinson's Collaborative Research Network, Chevy Chase, Maryland, USA.ORCID https://orcid.org/0000-0002-3019-8500
Anthony H V SchapiraDepartment of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.ORCID https://orcid.org/0000-0002-3018-3966

Funding

Aligning Science Across Parkinson's ASAP-000420
6 · The paper itself

Abstract

Glucocerebrosidase (GBA1) variants constitute numerically the most common known genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to GBA1 genotyping varies across the world and even regionally within countries. Guidelines for GBA1 variant counseling are evolving. We review the current knowledge of the link between GBA1 and PD, and discuss the practicalities of GBA1 testing. Lastly, we provide a consensus for an approach to counseling people with GBA1 variants, notably the communication of PD risk. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

Genetic CounselingGlucosylceramidaseParkinson DiseaseGenetic Predisposition to DiseaseHumansGBA protein, humanGlucosylceramidasecounselingGBA1neurodegenerationParkinson'srisk

Identifiers

PMID39258449
PMCPMC11657020

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.