NEUROFIBRILLARY TANGLES IN NIEMANN-PICK DISEASE TYPE-C
NEUROFIBRILLARY TANGLES IN NIEMANN-PICK DISEASE TYPE-C
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DOI：
10.1093/brain/118.1.119
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发表时间：
1995-02-01
期刊：
影响因子：
14.5
通讯作者：
CASE, CP
中科院分区：
文献类型：
--
作者：
LOVE, S;BRIDGES, LR;CASE, CP
对 5 例 C 型尼曼-匹克病的尸检神经病理学检查显示大脑许多部位存在神经原纤维缠结。在海马体、下丘脑、无名质、中脑桥和延髓中均发现有缠结。存在缠结的大脑其他区域包括新皮质、基底神经节、丘脑、小脑皮质（一种情况下为小脑皮质）和齿状核（另一种情况下）。这些缠结物是嗜银的，用硫黄素 S 染色时在紫外线下发出荧光，并与 tau 蛋白抗体发生强烈反应。一些缠结可以进行泛素免疫染色。对其中一个病例进行的电子显微镜检查显示，这些缠结由成对的螺旋丝组成，其超微结构与阿尔茨海默病的螺旋丝相同。整个中枢神经系统以及许多单个神经元中缠结的分布与异常存储材料的分布相当接近。缠结和存储材料都延伸到许多树突和轴突的近端部分并使其膨胀。在所有病例中均未检测到斑块形式或血管壁中的 A4/β 蛋白。我们的研究结果表明，神经原纤维缠结是 C 型内曼皮克病的一个共同特征，它们的形成可能是对异常储存材料的反应。
Post-mortem neuropathological examination of five cases of Niemann-Pick disease type C revealed neurofibrillary tangles in many parts of the brain. Tangles were a consistent finding in the hippocampus, hypothalamus, substantia innominata, midbrain pons and medulla. Other regions of the brain in which tangles were present included neocortex, basal ganglia, thalamus, cerebellar cortex in one case, and dentate nucleus in another. The tangles were argyrophilic, fluoresced under ultraviolet light when stained with thioflavin S, and reacted strongly with antibody to tau protein. Some of the tangles could be immunostained for ubiquitin. Electron microscopy, performed in one of the cases, showed the tangles to consist of paired helical filaments ultrastructurally identical to those of Alzheimer's disease. The distribution of the tangles in the central nervous system as a whole and also within many individual neurons corresponded fairly closely with that of the abnormal storage material. Both the tangles and the storage material extended into, and distended the proximal parts of many dendrites and axons. No A4/beta protein, either in the form of plaques or in the walls of blood vessels, was detected in any of the cases. Our findings suggest that neurofibrillary tangles are a common feature of Neimann-Pick disease type C and that their formation may be a reaction to the abnormal storage material.