Hereditary Neuropathy

Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type
Francisco de Assis Aquino Gondim, MD, MSc, PhD.


The inherited Charcot-Marie-Tooth peripheral neuropathies (CMT) were first described independently by Charcot and Marie in France (Charcot, 1886) and by Tooth in England (Tooth, 1886).

The heterogeneous nature and different forms of inheritance of the condition were soon recognized. Dejerine and Sottas described more severe infancy-onset cases (Dejerine, 1893), and Roussy and Levy described cases associated with tremor (Roussy, 1926).

In the late 1960s (Dyck, 1968), neurophysiologic testing allowed the classification of CMT into 2 groups, one with slow nerve conduction velocities and histologic features of a hypertrophic demyelinating neuropathy (hereditary motor and sensory neuropathy type 1 or CMT1) and another with relatively normal velocities and axonal and neuronal degeneration (hereditary motor and sensory neuropathy type 2 or CMT2).

Since the early 1990s, patients with both CMT1 and CMT2, while often clinically similar, were found to be genetically heterogeneous. Now a large and ever increasing number of genetic subtypes has been described, and major advances in molecular and cellular biology have clarified the understanding of the role of different proteins in the physiology of peripheral nerve conduction in health and in disease.

This article reviews the classification of CMT and correlates different genotypes and phenotypes. Hereditary neuropathy in which autonomic or sensory features predominate, conditions in which the neuropathy is part of a multiple-organ disturbance, and neuropathies with specific metabolic dysfunction are not discussed. (Click here to link to entire article)


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