Evidence map›Paper›PMID 39212252›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2024

Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies.

Tamara Shiner, Gitit Kavé, Anat Mirelman, Keren Regev, Yoav Piura, Orly Goldstein, Mali Gana Weisz, Anat Bar-Shira, Tanya Gurevich, Avi Orr-Urtreger and 3 more

Abstract read
In one paragraph

Article 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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–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

2 citing papers in PubMed.

  1. Effect of genetic factors on [European journal of nuclear medicine and molecular imaging · 2026
    Article
  2. Review
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

13 authors.

Tamara ShinerCognitive Neurology Unit, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.ORCID 0000-0002-6368-9656
Gitit KavéDepartment of Education and Psychology, The Open University, Raanana, Israel.
Anat MirelmanFaculty of Medicine and Health Sciences, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-1520-2292
Keren RegevNeuroimmunology Unit, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Yoav PiuraCognitive Neurology Unit, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Orly GoldsteinLaboratory of Biomarkers and Genomic of Neurodegeneration, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Mali Gana WeiszLaboratory of Biomarkers and Genomic of Neurodegeneration, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Anat Bar-ShiraGenetic Laboratory, Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Tanya GurevichFaculty of Medicine and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Avi Orr-UrtregerFaculty of Medicine and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Roy N AlcalayFaculty of Medicine and Health Sciences, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-5717-4875
Nir GiladiFaculty of Medicine and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Noa BregmanCognitive Neurology Unit, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGlucocerebrosidase 1 (GBA1) mutations are associated with reduced survival in Parkinson's disease but their effect on survival in dementia with Lewy bodies (DLB) is unclear.

objectiveTo assess the impact of GBA1 mutations on survival among Ashkenazi Jews with DLB, while controlling for APOE status.

methodsOne hundred and forty participants from Tel Aviv Medical Center, Israel were genotyped for GBA1 mutations and APOE polymorphisms. Survival rates and follow-up cognitive screening scores were analyzed.

resultsGBA1 mutation carriers had a two-fold increased risk of death (HR = 1.999), while APOE status did not independently affect survival. In a subset of patients with available clinical data (N = 63), carriers of the APOE ε4 allele showed faster cognitive deterioration, while GBA1 mutation carriers also declined more rapidly albeit not significantly.

conclusionUnderstanding the genetic effects on survival and progression is crucial for patient counseling and inclusion in clinical trials.

Indexed as

Apolipoproteins EDisease ProgressionGlucosylceramidaseJewsLewy Body DiseaseMutationAgedAged, 80 and overFemaleGenotypeHumansIsraelMaleMiddle AgedPolymorphism, GeneticApolipoproteins EGBA protein, humanGlucosylceramidase

Identifiers

PMID39212252
PMCPMC11657010

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.