Department of Neurology, Mayo Clinic School of Graduate Medical Education, 200 First St SW, Rochester, MN, 55905, USA,
J Neurol. 2015;262(4):801-5. doi: 10.1007/s00415-014-7490-9. Epub 2014 Sep 9.
Prior to Charcot and Marie's and Tooth's reports, patients with peroneal muscular atrophy had been described by Virchow, Eulenburg, Friedreich, Osler, and others. In February 1886, Charcot and Marie published their original description of five patients who had what they called Progressive Muscular Atrophy. They surmised that the lesion could be in the spinal cord. Three months later, Tooth presented his M.D. degree thesis entitled "Peroneal Type of Progressive Muscular Atrophy", to the University of Cambridge, UK. Tooth localized the pathology to the peripheral nerves. Dyck and Lambert (Arch Neurol 18:619-625, 1968) classified several CMT kinships based on differences in modes of inheritance, natural history, biochemical features, nerve conduction velocity, and pathologic characteristics. This article will focus on historical landmarks and major discoveries pertinent to the disease since its original description through the second half of the twentieth century.
在 Charcot 和 Marie 以及 Tooth 的报告之前,Virchow、Eulenburg、Friedreich、Osler 和其他人已经描述过患有腓骨肌萎缩症的患者。1886 年 2 月,Charcot 和 Marie 发表了他们对五名患者的原始描述,他们称之为进行性肌肉萎缩症。他们推测病变可能在脊髓中。三个月后,Tooth 向英国剑桥大学提交了题为“腓骨肌进行性萎缩症”的医学博士论文。Tooth 将病理学定位在外周神经。Dyck 和 Lambert(Arch Neurol 18:619-625, 1968)根据遗传模式、自然病史、生化特征、神经传导速度和病理特征的差异,对几种 CMT 家族进行了分类。本文将重点介绍自该病最初描述以来到 20 世纪后半叶的历史里程碑和重大发现。