Vital Anne, Vital Claude, Lagueny Alain, Ferrer Xavier, Ribière-Bachelier Catherine, Latour Philippe, Petry Klaus G
Department of Neuropathology, BP42, Victor Segalen University, 146 rue Léo-Saignat, 33076 Bordeaux, France.
Muscle Nerve. 2003 Sep;28(3):373-6. doi: 10.1002/mus.10404.
We report a case of Charcot-Marie-Tooth disease (CMT), with identified PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the course of the chronic genetic disease. Macrophage-associated demyelination was observed on the peripheral nerve biopsy. This observation supports some experimental data from the literature and shows that there may be a genetic susceptibility to inflammatory demyelinating processes in certain CMT kindreds.
我们报告了一例夏科-马里-图思病（CMT），其已鉴定出PMP22基因重复（1A型CMT），并有证据表明在这种慢性遗传疾病病程中叠加了炎症性脱髓鞘过程。在周围神经活检中观察到巨噬细胞相关的脱髓鞘。这一观察结果支持了文献中的一些实验数据，并表明在某些CMT家族中可能存在对炎症性脱髓鞘过程的遗传易感性。
