ORIGINAL RESEARCH article
Front. Neurol.
Sec. Stroke
This article is part of the Research TopicMolecular Diagnostics for Cardiovascular Rare DiseaseView all 4 articles
Perivascular spaces and basilar artery remodeling in Fabry disease: a dual vascular pathology
Provisionally accepted
- Pusan National University Yangsan Hospital, Yangsan, Republic of Korea
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Abstract Background: Fabry disease (FD) is a lysosomal storage disorder that causes glycosphingolipid deposition in the vascular endothelium. Early neurovascular involvement is difficult to detect because conventional MRI findings overlap with age-related small and large vessel changes. We hypothesized that integrating micro-and macrovascular MRI markers could improve the detection of FD-related vasculopathy. Methods: In a prospective case–control study, 26 genetically confirmed FD patients and 26 age-and sex-matched healthy controls underwent 3T MRI, including high-resolution vessel wall imaging. The macrovascular metrics included the basilar artery (BA) diameter, BA tortuosity index (BATI), and a composite BA degeneration index (BADI). The microvascular markers included the perivascular space (PVS) burden (Potter scale), white matter lesion severity (modified Fazekas scale), and global cerebral atrophy. Associations with FD were assessed using multivariable logistic regression, adjusting for age, sex, and vascular risk factors. Correlations between micro-and macrovascular markers and age-stratified analyses were also performed. Results: Patients with FD exhibited a larger BA diameter, higher PVS burden in the basal ganglia and centrum semiovale, and greater cerebral atrophy than controls, while Fazekas scores were similar. Both PVS burden and BA diameter were independently associated with FD after adjustment, and the PVS burden remained significant after controlling for vascular risk factors. In patients with FD, but not in controls, the PVS burden correlated positively with the BADI, indicating coupled micro-and macrovascular remodeling. Age-stratified analyses revealed steeper increases in BA metrics and PVS burden with advancing age in patients with FD, suggesting accelerated vascular degeneration. Conclusion: Combining the PVS burden with posterior circulation remodeling indices (BA diameter/BADI) reveals the disease-specific coupling of micro-and macrovascular degeneration in FD. This quantitative MRI approach may enable earlier diagnosis, more precise risk stratification, and monitoring of therapeutic responses in clinical practice.
Keywords: Fabry Disease, Perivascular spaces, Basilar Artery, High-resolution vessel wall imaging, Brain magnetic resonance imaging
Received: 20 Aug 2025; Accepted: 24 Nov 2025.
Copyright: © 2025 Ahn, Roh, Cheon, Lee, Baik, Park and Park. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Sungho Ahn, caesar-ahn@hanmail.net
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