Po Phyu1, Aine Merwick1, Indran Davagnanam1, Fay Bolsover1, Fatima Jichi1, Claudia Wheeler-Kingshott1, Xavier Golay1, Deralynn Hughes1, Lisa Cipolotti1, Elaine Murphy1, Robin H Lachmann1, David John Werring2. 1. From the Stroke Research Centre, Department of Brain Repair and Rehabilitation (P.P., A.M., I.D., X.G., D.J.W.), UCL Institute of Neurology; Charles Dent Metabolic Unit (A.M., E.M., R.H.L.), National Hospital for Neurology and Neurosurgery, London; Beaumont Hospital and Royal College of Surgeons in Ireland (A.M.), Beaumont, Dublin; Academic Department of Neuroradiology (I.D., X.G.), Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London; Department of Neuropsychology (F.B., L.C.), National Hospital for Neurology and Neurosurgery; Department of Biostatistics (F.J.), UCL and University College London Hospitals; Department of Neuroinflammation (C.W.-K.), UCL Institute of Neurology; and Lysosomal Storage Disorders Unit (D.H.), Royal Free Hospital, London, UK. 2. From the Stroke Research Centre, Department of Brain Repair and Rehabilitation (P.P., A.M., I.D., X.G., D.J.W.), UCL Institute of Neurology; Charles Dent Metabolic Unit (A.M., E.M., R.H.L.), National Hospital for Neurology and Neurosurgery, London; Beaumont Hospital and Royal College of Surgeons in Ireland (A.M.), Beaumont, Dublin; Academic Department of Neuroradiology (I.D., X.G.), Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London; Department of Neuropsychology (F.B., L.C.), National Hospital for Neurology and Neurosurgery; Department of Biostatistics (F.J.), UCL and University College London Hospitals; Department of Neuroinflammation (C.W.-K.), UCL Institute of Neurology; and Lysosomal Storage Disorders Unit (D.H.), Royal Free Hospital, London, UK. d.werring@ucl.ac.uk.
Abstract
OBJECTIVE: To assess resting cerebral blood flow (CBF) in the whole-brain and cerebral white matter (WM) and gray matter (GM) of adults with Fabry disease (FD), using arterial spin labeling (ASL) MRI, and to investigate CBF correlations with WM hyperintensity (WMH) volume and the circulating biomarker lyso-Gb3. METHODS: This cross-sectional, case-control study included 25 patients with genetically confirmed FD and 18 age-matched healthy controls. We quantified resting CBF using Quantitative Signal Targeting With Alternating Radiofrequency Labeling of Arterial Regions (QUASAR) ASL MRI. We measured WMH volume using semiautomated software. We measured CBF in regions of interest in whole-brain, WM, and deep GM, and assessed correlations with WMH volume and plasma lyso-Gb3. RESULTS: The mean age (% male) for FD and healthy controls was 42.2 years (44%) and 37.1 years (50%). Mean whole-brain CBF was 27.56 mL/100 mL/min (95% confidence interval [CI] 23.78-31.34) for FD vs 22.39 mL/100 mL/min (95% CI 20.08-24.70) for healthy controls, p = 0.03. In WM, CBF was higher in FD (22.42 mL/100 mL/min [95% CI 17.72-27.12] vs 16.25 mL/100 mL/min [95% CI 14.03-18.48], p = 0.05). In deep GM, CBF was similar between groups (40.41 mL/100 mL/min [95% CI 36.85-43.97] for FD vs 37.46 mL/100 mL/min [95% CI 32.57-42.35], p = 0.38). In patients with FD with WMH (n = 20), whole-brain CBF correlated with WMH volume (r = 0.59, p = 0.006), not with plasma lyso-Gb3. CONCLUSION: In FD, resting CBF is increased in WM but not deep GM. In FD, CBF correlates with WMH, suggesting that cerebral perfusion changes might contribute to, or result from, WM injury.
OBJECTIVE: To assess resting cerebral blood flow (CBF) in the whole-brain and cerebral white matter (WM) and gray matter (GM) of adults with Fabry disease (FD), using arterial spin labeling (ASL) MRI, and to investigate CBF correlations with WM hyperintensity (WMH) volume and the circulating biomarker lyso-Gb3. METHODS: This cross-sectional, case-control study included 25 patients with genetically confirmed FD and 18 age-matched healthy controls. We quantified resting CBF using Quantitative Signal Targeting With Alternating Radiofrequency Labeling of Arterial Regions (QUASAR) ASL MRI. We measured WMH volume using semiautomated software. We measured CBF in regions of interest in whole-brain, WM, and deep GM, and assessed correlations with WMH volume and plasma lyso-Gb3. RESULTS: The mean age (% male) for FD and healthy controls was 42.2 years (44%) and 37.1 years (50%). Mean whole-brain CBF was 27.56 mL/100 mL/min (95% confidence interval [CI] 23.78-31.34) for FD vs 22.39 mL/100 mL/min (95% CI 20.08-24.70) for healthy controls, p = 0.03. In WM, CBF was higher in FD (22.42 mL/100 mL/min [95% CI 17.72-27.12] vs 16.25 mL/100 mL/min [95% CI 14.03-18.48], p = 0.05). In deep GM, CBF was similar between groups (40.41 mL/100 mL/min [95% CI 36.85-43.97] for FD vs 37.46 mL/100 mL/min [95% CI 32.57-42.35], p = 0.38). In patients with FD with WMH (n = 20), whole-brain CBF correlated with WMH volume (r = 0.59, p = 0.006), not with plasma lyso-Gb3. CONCLUSION: In FD, resting CBF is increased in WM but not deep GM. In FD, CBF correlates with WMH, suggesting that cerebral perfusion changes might contribute to, or result from, WM injury.
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