Charcot-Marie-Tooth disease from first description to genetic localization of mutations

Abstract

Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy first described in 1886. Our increasing knowledge of this disease correlates well with the development of methods used in neurology over the past 100 years. Although its physiopathology and treatment is still not fully understood, current developments in techniques are opening the way to future discoveries. We have divided its history into three theoretical periods: the first from 1886 to 1956, which was devoted to clinical and pathological study of the disease; the second from 1956 to 1982, which saw the development of electromyography in the investigation of neuromuscular diseases; and the last and current period based upon genetic research, using the methods of molecular biology.