MRI-visible perivascular spaces as an imaging biomarker in Fabry disease
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MRI‑visible perivascular spaces as an imaging biomarker in Fabry disease D. Lyndon1 · I. Davagnanam2 · D. Wilson1,8 · F. Jichi3 · A. Merwick1 · F. Bolsover4 · H. R. Jager2 · L. Cipolotti5 · C. Wheeler‑Kingshott6 · D. Hughes7 · E. Murphy4 · R. Lachmann4 · D. J. Werring1 Received: 22 April 2020 / Revised: 30 August 2020 / Accepted: 2 September 2020 © The Author(s) 2020
Abstract Introduction Fabry 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 methods We 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. Results We 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 mm3 vs 0, p = 0.0008), more CMBs (21.21% vs none, p = 0.04), and a higher prevalence of lacunes (21.21% vs. 5%, p = 0.23). Conclusions PVS 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. Keywords Fabry disease · Magnetic resonance imaging · Perivascular spaces · Neurovascular disease
Introduction Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency in the α-galactosidase A (GLA) enzyme, leading to the accumulation of * I. Davagnanam [email protected] 1
2
Stroke Research Centre, Department of Brain Repair and Rehabilitation, Institute of Neurology, Russell Square House, London, UK Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, Queen Square, London, UK
3
Department of Biostatistics, University College of London, London, UK
4
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK
globotriaosylceramide (Gb3) in multiple organ tissues and blood vessels, with increased stroke risk [1]. Ischaemic stroke and transient ischaemic attack are the most prevalent central nervous system manifestations of FD [2]. The pathophysiology of cerebrovascular dysfunction i
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