EARLY MORPHOLOGICAL FEATURES IN DOMINANTLY INHERITED DEMYELINATING MOTOR AND SENSORY NEUROPATHY (HMSN TYPE-I)
EARLY MORPHOLOGICAL FEATURES IN DOMINANTLY INHERITED DEMYELINATING MOTOR AND SENSORY NEUROPATHY (HMSN TYPE-I)
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DOI：
10.1016/0022-510x(92)90282-p
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发表时间：
1992-02-01
影响因子：
4.4
通讯作者：
KEMPEN, TWJ
中科院分区：
文献类型：
--
作者：
GABREELSFESTEN, AAWM;JOOSTEN, EMG;KEMPEN, TWJ
本文对17例婴儿起病的显性遗传性脱髓鞘运动神经病和感觉神经病(HMSN I型)进行了研究。不仅是临床和电生理数据，而且被认为是HMSN I型和III型HMSN的区别特征g比率(轴突直径与纤维直径)也显示出重叠。形态和形态计量学研究已经发现，早期缺乏大小直径的有髓轴突，脱髓鞘过程在儿童早期最为活跃，随后轴突丢失。结论：HMSN I型的组织病理学不能用轴突萎缩伴继发性脱髓鞘来充分解释。
Seventeen cases of dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I) with infantile onset were studied. Not only clinical and electrophysiological data, but also the g ratio (axon diameter to fibre diameter), considered to be a distinguishing feature between HMSN type I and HMSN type III, showed overlap. Morphological and morphometrical investigations already revealed a lack of small and large diameter myelinated axons at an early stage, and a demyelinating process most active in early childhood followed later by axonal loss. It was concluded that the histopathology of HMSN type I cannot bc sufficiently explained by axonal atrophy with secondary demyelination.