Evidence map›Paper›PMID 41201212›Full record

ArticleEuropean journal of neurology2025

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort.

David Moreno-Martinez, Sara Lucas-Del-Pozo, Lucia Lavalle, Uma Ramaswami, Lionel Ginsberg, Guillem Pintos-Morell, Derralynn A Hughes

Abstract read
In one paragraph

Article in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

7 authors.

David Moreno-MartinezLysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London, UK.ORCID 0000-0001-9777-7796
Sara Lucas-Del-PozoDepartment of Clinical and Movement Neurosciences, Queen Square Institute of Neurology and University College London, London, UK.ORCID 0000-0002-5431-8204
Lucia LavalleLysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London, UK.ORCID 0000-0002-0743-3402
Uma RamaswamiLysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London, UK.ORCID 0000-0002-4703-7447
Lionel GinsbergDepartment of Clinical and Movement Neurosciences, Queen Square Institute of Neurology and University College London, London, UK.ORCID 0009-0001-3159-3166
Guillem Pintos-MorellVall d'Hebron Institute of Research (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.ORCID 0000-0002-9347-2386
Derralynn A HughesLysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London, UK.ORCID 0000-0003-4531-9173

Funding

'la Caixa' Foundation LCF/BQ/EU20/11810050National MPS Society
6 · The paper itself

Abstract

objectivesRisk factors for stroke in Fabry disease (FD) are not precisely known. This study presents a retrospective cohort analysis from one reference centre in the United Kingdom to determine risk factors for stroke and to develop a predictive model.

methodsPatients > 18 years old were included in the study and were followed from their first visit until March 2019. The main outcome of the survival analysis was time to stroke. The independent risk factors were evaluated using a multivariate Cox regression.

resultsOf 414 patients, 368 were included in the survival analysis. 227 (61.7%) were female, with a median baseline age of 42.7 (IQR 27.8-54.8) for males and 39.9 (26.6-51.2) years for females. 56 (39.7%) males and 64 (28.2%) females had the N215S genotype. 41 patients had a stroke at baseline (11.2%), rising to 69 (18.8%) at the end-66.7% lacunar, 18.9% anterior circulation, 13% posterior circulation and 1.4% venous thrombosis. Median follow-up was 10.4 years. Median time to stroke in males and females was 43 (43-43) and 58 (58-59) years, respectively. In the multivariate analysis, a concomitant autoimmune disease was associated with an increased risk of stroke, while glomerular filtration rate > 90 and N215S genotype were associated with a decreased risk.

interpretationSex was not associated with stroke, despite males being more severe. These results might help stratify patients and are of interest not only to metabolic physicians, but to general stroke physicians too.

Indexed as

Fabry DiseaseStrokeAdultCohort StudiesFemaleHumansMaleMiddle AgedRetrospective StudiesRisk FactorsFabry diseaselysosomal storage disordersstroke

Identifiers

PMID41201212
PMCPMC12593542

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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.