Sobue G, Nakao N, Murakami K, Yasuda T, Sahashi K, Mitsuma T, Sasaki H, Sakaki Y, Takahashi A
Fourth Department of Internal Medicine, Aichi Medical University, Japan.
Brain. 1990 Aug;113 ( Pt 4):903-19. doi: 10.1093/brain/113.4.903.
The neuropathological changes were examined in 2 cases of type I familial amyloid polyneuropathy (FAP), confirmed by a genetic study with human transthyretin (prealbumin) cDNA. These cases were from different foci of type I FAP in Japan, but showed a similar pathology in the peripheral nerves. Loss of dorsal root and sympathetic ganglion neurons, predominantly those of small size, was prominent, whereas ventral horn cells were well preserved. Distally accentuated axonal loss with marked axonal sprouting was the principal feature. Fibre sprouts were ubiquitous throughout the nerves and affected the fibre size distribution. Segmental demyelination and remyelination were prominent in the proximal portions of nerves, but axonal degeneration was more conspicuous in the distal portions. The centrally-directed branches of the primary sensory neurons did not show distally-accentuated axonal loss in the dorsal columns. Amyloid deposits were present universally in the endoneurial spaces of the peripheral nerves, but more prominently in the dorsal root ganglia, sympathetic ganglia and more proximal portions of the nerves, and the distribution correlated well with the occurrence of the pathology of peripheral nerves. Neurofilamentous accumulation was frequent in the proximal axons and neuronal cell bodies of the sensory and sympathetic neurons. Schwann cells and satellite cells to which amyloid deposits were attached frequently showed disappearance of basement membrane and proliferation of distorted processes. The findings in the present cases suggest that the Schwann and satellite cells may be directly affected by the amyloid deposits, but the pathogenetic mechanism of marked axonal and neuronal involvement still remains to be elucidated.
对2例经人转甲状腺素蛋白（前白蛋白）cDNA基因研究确诊的Ⅰ型家族性淀粉样多神经病（FAP）患者进行了神经病理学改变检查。这2例患者来自日本不同的Ⅰ型FAP病灶，但周围神经显示出相似的病理变化。背根和交感神经节神经元丧失，以小尺寸神经元为主，十分显著，而腹角细胞保存完好。以远端加重的轴突丧失伴明显的轴突发芽为主要特征。神经纤维芽在整个神经中普遍存在，并影响纤维大小分布。节段性脱髓鞘和再髓鞘化在神经近端较为突出，但轴突变性在远端更为明显。初级感觉神经元的向中枢分支在背柱中未显示出远端加重的轴突丧失。淀粉样沉积物普遍存在于周围神经的神经内膜间隙中，但在背根神经节、交感神经节和神经近端更为突出，其分布与周围神经病理学变化的发生密切相关。神经丝聚集在感觉和交感神经元的近端轴突和神经元细胞体中很常见。附着有淀粉样沉积物的施万细胞和卫星细胞常显示基底膜消失和扭曲突起的增殖。本病例的研究结果表明，施万细胞和卫星细胞可能直接受到淀粉样沉积物的影响，但明显的轴突和神经元受累的发病机制仍有待阐明。
