显性遗传性脱髓鞘运动和感觉神经病（I型遗传性运动感觉神经病）的早期形态学特征

Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I).

作者信息

Gabreëls-Festen A A, Joosten E M, Gabreëls F J, Jennekens F G, Janssen-van Kempen T W

机构信息

Institute of Neurology, University Hospital Nijmegen, The Netherlands.

出版信息

J Neurol Sci. 1992 Feb;107(2):145-54. doi: 10.1016/0022-510x(92)90282-p.

DOI:10.1016/0022-510x(92)90282-p

PMID:1564512

Abstract

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 be sufficiently explained by axonal atrophy with secondary demyelination.

摘要

对17例显性遗传的脱髓鞘性运动和感觉神经病（I型遗传性运动感觉神经病，HMSN）伴婴儿期起病的病例进行了研究。不仅临床和电生理数据，而且被认为是I型HMSN和III型HMSN之间区别特征的g比值（轴突直径与纤维直径之比）也显示出重叠。形态学和形态计量学研究已经表明，在疾病早期就缺乏小直径和大直径的有髓轴突，并且脱髓鞘过程在幼儿期最为活跃，随后是轴突丧失。得出的结论是，I型HMSN的组织病理学不能通过继发于脱髓鞘的轴突萎缩得到充分解释。