the central nervous system in Fabry's disease. A clinical, pathological, and biochemical investigation.
the central nervous system in Fabry's disease. A clinical, pathological, and biochemical investigation.
复制标题
法布里病的中枢神经系统。
DOI：
10.1001/archneur.1971.00490040077009
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发表时间：
1971
影响因子：
--
通讯作者：
E. Reske‐Nielsen
中科院分区：
文献类型：
--
作者：
H. Lou;E. Reske‐Nielsen
对2例Fabry病和1例神经化学检查进行了临床、神经学和神经病理学研究。脑部疾病的病程由突发事件和更渐进的脑功能障碍进展组成。脑电图显示局限性和弥漫性异常，血管造影和脑血流正常。脑氧代谢率降低。神经病理学检查显示内皮细胞、平滑肌细胞、巨噬细胞和蛛网膜细胞中有糖脂染色的异常沉积。脑实质可见弥漫性和局灶性继发性改变。薄层层析显示Rf值为三己糖神经氨酸皮质的异常组分的痕迹。神经节苷脂和神经节苷脂的薄层色谱图均正常。对脂质结合的己糖的测定显示，微粒体数增加了五倍，髓鞘的正常值也增加了。
Clinical neurological and neuropathological studies were made in two cases of Fabry's disease and a neurochemical investigation in one. The course of the cerebral disorder consisted of sudden events and more gradual progression of cerebral dysfunction. Electroencephalography showed focal and diffuse abnormalities; angiograms and cerebral blood flow were normal. The cerebral metabolic rate of oxygen was decreased. Neuropathological studies showed abnormal deposits with staining properties as glycolipid in endothelial cells, smooth muscle cells, macrophages, and in arachnoidal cells. Diffuse and focal secondary changes were seen in the brain parenchyme. Thin-layer chromatography demonstrated traces of an abnormal fraction with Rf value as trihexose ceramidein cortex. Thin-layer chromatograms of myelin sphingolipids and the ganglioside pattern were normal. Determinations of lipid-bound hexose showed a fivefold increase in microsomes and normal values in myelin.