ArticleJournal of neurology2021
MRI-visible perivascular spaces as an imaging biomarker in Fabry disease.
Article in Journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease.Cells · 2026Review
- Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.Neurological research and practice · 2025Article
- Recent developments in translational imaging of in vivo gene therapy outcomes.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Brain MRI correlations with disease burden and biomarkers in Fabry disease.Journal of neurology · 2023Article
- Automated Methods for Detecting and Quantitation of Enlarged Perivascular spaces on MRI.Journal of magnetic resonance imaging : JMRI · 2023Review
- Associations of MRI-visible perivascular spaces with longitudinal cognitive decline across the Alzheimer's disease spectrum.Alzheimer's research & therapy · 2022Article
- Enlarged perivascular spaces and white matter hyperintensities in patients with frontotemporal lobar degeneration syndromes.Frontiers in aging neuroscience · 2022Article
- Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease.Internal medicine (Tokyo, Japan) · 2021Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionFabry disease (FD) is an X-linked lysosomal storage disorder resulting in vascular glycosphingolipid accumulation and increased stroke risk. MRI findings associated with FD include white matter hyperintensities (WMH) and cerebral microbleeds (CMBs), suggesting the presence of cerebral small vessel disease. MRI-visible perivascular spaces (PVS) are another promising marker of small vessel disease associated with impaired interstitial fluid drainage. We investigated the association of PVS severity and anatomical distribution with FD. PATIENTS AND
methodsWe compared patients with genetically proven FD to healthy controls. PVS, WMH, lacunes and CMBs were rated on standardised sequences using validated criteria and scales, blinded to diagnosis. A trained observer (using a validated rating scale), quantified the total severity of PVS. We used logistic regression to investigate the association of severe PVS with FD.
resultsWe included 33 FD patients (median age 44, 44.1% male) and 20 healthy controls (median age 33.5, 50% male). Adjusting for age and sex, FD was associated with more severe basal ganglia PVS (odds ratio (OR) 5.80, 95% CI 1.03-32.7) and higher total PVS score (OR 4.03, 95% CI 1.36-11.89). Compared with controls, participants with FD had: higher WMH volume (median 495.03 mm
conclusionsPVS scores are more severe in FD than control subjects. Our findings have potential relevance for FD diagnosis and suggest that impaired interstitial fluid drainage might be a mechanism of white matter injury in FD.
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