Moore David F, Altarescu Gheona, Barker W Craig, Patronas Nicholas J, Herscovitch Peter, Schiffmann Raphael
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892-1260, USA.
Brain Res Bull. 2003 Dec 30;62(3):231-40. doi: 10.1016/j.brainresbull.2003.09.021.
Fabry disease is an X-linked disorder associated with early onset stroke. We previously found a significantly elevated cerebral blood flow (CBF) in patients with Fabry disease. We set to determine whether elevated resting CBF in Fabry disease is primarily a cerebrovascular abnormality or is secondary to enhanced neuronal metabolism. The relationship of cerebral metabolism and blood flow to Fabry leukoencephalopathy was also investigated. We measured the global and regional cerebral metabolic rate of glucose using 18-fluoro-deoxyglucose (FDG) and PET in 16 patients with Fabry disease (7 patients with leukoaraiotic lesions and 9 without) and in 7 control subjects. MRI fluid attenuated inversion recovery (FLAIR) studies were also performed in the patient and control groups. All control subjects had normal MRI FLAIR studies with no high-signal deep white matter lesions (WML). Patients were partitioned into FLAIR lesion and non-FLAIR lesion groups. We found no evidence of cerebral glucose hypermetabolism in Fabry disease. On the contrary, significantly decreased regional cerebral glucose metabolism (rCMRGlu) was found particularly in the deep white matter in the Fabry non-lesion group and exacerbated in the lesion group. Lesion-susceptible regions were relatively hyperperfused in non-lesion patients compared to the control group. We conclude that the elevated rCBF and decreased white matter rCMRGlu indicates a dissociation between metabolism and blood flow suggesting chronic deep white matter metabolic insufficiency.
法布里病是一种与早发性中风相关的X连锁疾病。我们之前发现法布里病患者的脑血流量（CBF）显著升高。我们着手确定法布里病患者静息CBF升高主要是脑血管异常还是继发于神经元代谢增强。还研究了脑代谢和血流与法布里白质脑病的关系。我们使用18-氟脱氧葡萄糖（FDG）和PET对16例法布里病患者（7例有白质疏松病变，9例无）和7例对照者进行了全脑和局部脑葡萄糖代谢率测量。患者组和对照组也进行了MRI液体衰减反转恢复（FLAIR）研究。所有对照者的MRI FLAIR研究均正常，无深部白质高信号病变（WML）。患者被分为FLAIR病变组和非FLAIR病变组。我们在法布里病中未发现脑葡萄糖代谢亢进的证据。相反，特别是在法布里病非病变组的深部白质中发现局部脑葡萄糖代谢（rCMRGlu）显著降低，在病变组中更为严重。与对照组相比，非病变患者中病变易感性区域相对灌注过度。我们得出结论，rCBF升高和白质rCMRGlu降低表明代谢与血流之间存在分离，提示慢性深部白质代谢不足。
