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MRI-visible perivascular spaces as an imaging biomarker in Fabry disease
D Lyndon1, I Davagnanam2, D Wilson1,3
1Stroke Research Centre, Department of Brain Repair and Rehabilitation, Institute of Neurology, Russell Square House, London, UK.
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.
Insights
Fabry disease (FD) patients show more severe perivascular spaces (PVS) and white matter damage compared to healthy individuals. This suggests impaired fluid drainage may contribute to brain injury in FD.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder.
- FD leads to glycosphingolipid accumulation, increasing stroke risk.
- Cerebral small vessel disease, including white matter hyperintensities (WMH) and cerebral microbleeds (CMBs), is observed in FD patients.
Purpose of the Study:
- To investigate the association between perivascular spaces (PVS) severity and anatomical distribution in FD patients.
- To compare PVS severity in FD patients versus healthy controls.
- To explore PVS as a potential marker for small vessel disease in FD.
Main Methods:
- A comparative study involving genetically confirmed FD patients and healthy controls.
- Standardized MRI sequences were used to assess PVS, WMH, lacunes, and CMBs, with blinded rating.
- Logistic regression analysis was employed to determine the association between severe PVS and FD.
Main Results:
- FD patients (n=33) exhibited significantly more severe basal ganglia PVS (OR 5.80) and higher total PVS scores (OR 4.03) compared to controls (n=20), after adjusting for age and sex.
- FD patients had increased WMH volume (median 495.03 mm³ vs 0) and a higher prevalence of CMBs (21.21% vs 0%).
- A trend towards a higher prevalence of lacunes was observed in FD patients (21.21% vs 5%).
Conclusions:
- Perivascular space scores are significantly more severe in individuals with Fabry disease.
- These findings suggest that impaired interstitial fluid drainage may be a key mechanism underlying white matter injury in FD.
- Increased PVS severity has potential implications for the diagnosis and understanding of FD-related cerebrovascular pathology.
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