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J Neurol (2015) 262:801805 DOI 10.1007/s00415-014-7490-9
REVIEW
Charcot Marie Tooth disease (CMT): historical perspectives and evolution
Mohamed Kazamel Christopher J. Boes
Received: 15 August 2014 / Revised: 1 September 2014 / Accepted: 2 September 2014 / Published online: 9 September 2014 Springer-Verlag Berlin Heidelberg 2014
Abstract Prior to Charcot and Maries and Tooths 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 ve 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 18:619625, 1968) classied 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.
Keywords Charcot Marie Tooth disease CMT History
of neurology Jean-Martin Charcot Pierre Marie Howard
Tooth
Introduction
Charcot Marie Tooth disease (CMT) is a phenotypically and genetically heterogeneous group of hereditary peripheral nerve disorders affecting axons and/or Schwann cells [1]. Since the original description of the disease by Char-cot, Marie and Tooth, its principal features have included slowly progressive muscular atrophy (which initially involves the feet and legs, but does not affect the upper extremities until several years later), relative preservation of the integrity of the proximal muscles (or at least preservation for a much longer time than of the distal muscles), preservation of the integrity of the muscles of the trunk, shoulders, and face, brillations and cramps in the atrophied muscles, vasomotor disturbances in the segments of the involved extremities, and often intact sensory modalities [2]. The term peroneal muscular atrophy was a common name used to describe CMT for almost more than 100 years after the original description of the disease. Until 1989, the CMT Association was called the National Foundation for Peroneal Muscular Atrophy [3]. Prior to Charcot and Maries and Tooths reports of the disease, patients with...