Evidence map›Paper›PMID 41123702›Full record

SynthesisJournal of neurology2025

Prevalence of Fabry disease in cryptogenic stroke: a systematic review and meta-analysis with meta-regression.

Pedro Lucas Machado Magalhães, Ocílio Ribeiro Gonçalves, Othon Trevisan Meira, Anderson Matheus Pereira da Silva, Mariana Letícia Bastos de Maximiano, Mariana Lee Han, Luciano Falcão, Elizabeth Honorato de Farias, Lucca Tamara Alves Carretta, Fabíola Rachid Malfetano

Abstract readSystematic ReviewMeta-Analysis
PubMed Publisher
In one paragraph

Synthesis in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Pedro Lucas Machado MagalhãesFaculty of Medicine, Institute of Medical Education, Angra dos Reis, Rio de Janeiro, Brazil. pedrolucas.magalhaes@icloud.com.ORCID http://orcid.org/0009-0004-1840-2953
Ocílio Ribeiro GonçalvesFaculty of Medicine, Federal University of Piauí, Teresina, Brazil.
Othon Trevisan MeiraDepartment of Neurology, Curitiba Institute of Neurology, Curitiba, Brazil.
Anderson Matheus Pereira da SilvaFaculty of Pharmacy, Federal University of the São Francisco Valley, Petrolina, Brazil.
Mariana Letícia Bastos de MaximianoFaculty of Medicine, Federal Fluminense University, Niterói, Brazil.
Mariana Lee HanFaculty of Medicine, University of São Paulo, São Paulo, Brazil.
Luciano FalcãoFaculty of Medicine, Bahiana School of Medicine and Public Health, Salvador, Brazil.
Elizabeth Honorato de FariasFaculty of Medicine, Federal University of Roraima, Roraima, Brazil.
Lucca Tamara Alves CarrettaFaculty of Medicine, Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória, Vitória, Brazil.
Fabíola Rachid MalfetanoFaculty of Medicine, Institute of Medical Education, Angra dos Reis, Rio de Janeiro, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCryptogenic stroke (CS) is an ischemic stroke with no identifiable cause after extensive evaluation and is particularly concerning in young adults. Among potential etiologies, Fabry disease (FD), a rare X-linked lysosomal storage disorder caused by GLA mutations, has been implicated. FD leads to α-galactosidase A deficiency and accumulation of globotriaosylceramide in endothelial cells, contributing to cerebrovascular events. However, the prevalence and clinical features of FD in CS remain uncertain. To determine the prevalence of FD in CS and characterize its classical manifestations.

methodsWe performed a systematic review and meta-analysis (PROSPERO: CRD420251003865) in accordance with PRISMA 2020. PubMed, Embase, Web of Science, and Scopus were searched through January 2025. Eligible studies assessed FD among adult CS patients using enzymatic and/or genetic testing. A random-effects model was used to calculate pooled prevalence estimates. Heterogeneity was evaluated via I

resultsSixteen studies (n = 7048) were included. The pooled prevalence of FD in CS was 1.3% (95% CI 0.75-2.32%; I

conclusionFD accounts for a small but clinically relevant proportion of cryptogenic strokes. Selective screening, especially in young males with systemic redflags, may improve early detection. Future research should adopt standardized diagnostic algorithms to enhance cost-effective identification and management. LEVEL OF EVIDENCE: III.

Indexed as

Fabry DiseaseIschemic StrokeStrokeHumansMalePrevalenceCryptogenic strokeFabry diseaseMeta-analysisPrevalenceSystematic review

Identifiers

PMID41123702

What OpenQuestion holds

Textmetadata
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.