ArticleNeurology2018
Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study.
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Article in Neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 18 citations in OpenAlex.
- Arterial spin labeling MRI in CADASIL: Implications for cerebral small vessel disease and therapeutic trials.Cerebral circulation - cognition and behavior · 2026Review
- Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease.AJNR. American journal of neuroradiology · 2024Article
- Review
- Investigation of OCTA Biomarkers in Fabry Disease: A Long Term Follow-Up of Macular Vessel Area Density and Foveal Avascular Zone Metrics.Ophthalmology and therapy · 2023Article
- Multidelay ASL of the pediatric brain.The British journal of radiology · 2022Review
- Structural disconnection and functional reorganization in Fabry disease: a multimodal MRI study.Brain communications · 2022Article
- The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts.Orphanet journal of rare diseases · 2020Article
- Variables Associated with a Urinary MicroRNAs Excretion Profile Indicative of Renal Fibrosis in Fabry Disease Patients.International journal of chronic diseases · 2019Article
- Neuroimaging in Fabry disease: current knowledge and future directions.Insights into imaging · 2018Review
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Authors and funding
12 authors at 4 institutions in 2 countries.
Po PhyuFrom 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.
Aine MerwickFrom 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.
Indran DavagnanamFrom 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.
Fay BolsoverFrom 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.
Fatima JichiFrom 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.
Claudia Wheeler-KingshottFrom 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.
Xavier GolayFrom 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.
Deralynn HughesFrom 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.
Lisa CipolottiFrom 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.
Elaine MurphyFrom 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.
Robin H LachmannFrom 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.
David John WerringFrom 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.
Royal London Hospital · GBBeaumont Hospital · IENational Hospital for Neurology and Neurosurgery · GBUniversity College London · GB
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo 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.
methodsThis 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.
resultsThe 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,
conclusionIn 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.
Indexed as
AdultAgedBrainCase-Control StudiesCerebrovascular CirculationFabry DiseaseFemaleGlycolipidsHumansMagnetic Resonance ImagingMaleMiddle AgedRetrospective StudiesSeverity of Illness IndexSphingolipidsSpin Labelsglobotriaosyl lysosphingolipidGlycolipidsSphingolipidsSpin Labels
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