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.
Neurology. 2018 Apr 17;90(16):e1379-e1385. doi: 10.1212/WNL.0000000000005330. Epub 2018 Mar 21.
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.
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.
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, = 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], = 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], = 0.38). In patients with FD with WMH (n = 20), whole-brain CBF correlated with WMH volume ( = 0.59, = 0.006), not with plasma lyso-Gb3.
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.
使用动脉自旋标记（ASL）MRI 评估法布里病（FD）成人的全脑和脑白质（WM）及灰质（GM）的静息脑血流（CBF），并探讨 CBF 与 WM 高信号（WMH）体积和循环生物标志物溶酶体神经酰胺三己糖苷（lyso-Gb3）之间的相关性。
本横断面病例对照研究纳入了 25 例经基因证实的 FD 患者和 18 例年龄匹配的健康对照者。我们使用定量信号靶向交替射频标记动脉区域（QUASAR）ASL MRI 来量化静息 CBF。我们使用半自动软件测量 WMH 体积。我们在全脑、WM 和深部 GM 进行了感兴趣区的 CBF 测量，并评估了与 WMH 体积和血浆 lyso-Gb3 的相关性。
FD 组和健康对照组的平均年龄（%男性）分别为 42.2 岁（44%）和 37.1 岁（50%）。FD 组的全脑 CBF 平均值为 27.56 mL/100 mL/min（95%置信区间[CI]23.78-31.34），而健康对照组为 22.39 mL/100 mL/min（95%CI 20.08-24.70）， = 0.03。在 WM 中，FD 组的 CBF 较高（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]， = 0.05）。在深部 GM 中，两组间 CBF 相似（FD 组为 40.41 mL/100 mL/min [95% CI 36.85-43.97]，健康对照组为 37.46 mL/100 mL/min [95% CI 32.57-42.35]， = 0.38）。在有 WMH 的 FD 患者中（n = 20），全脑 CBF 与 WMH 体积相关（ = 0.59， = 0.006），与血浆 lyso-Gb3 无关。
在 FD 中，WM 的静息 CBF 增加，但深部 GM 没有增加。在 FD 中，CBF 与 WMH 相关，提示脑灌注变化可能导致或源于 WM 损伤。
