CMT disease: from phenotype to genotype

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Abstract from Rev Neurol (Paris). 2004 Dec;160(12):1221-9.

Charcot-Marie-Tooth disease: from phenotype to genotype.

Dubourg O.

Service de Neuropathologie.

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous

group of hereditary motor and sensory neuropathies. The classification is based

on mode of transmission, electrophysiological and genetic criteria. At least

sixteen genes are known and others remain to be identified. The use of

diagnostic strategies is needed to guide molecular analysis. The approach

differs according to the CMT subtype. In dominant forms, which are the most

frequent in our population, the value of median motor nerve conduction velocity

is very useful to orient molecular analysis. In particular, it contributes

significantly to screening for the two major mutations: the 17p11.2 duplication,

responsible for an autosomal dominant demyelinating form, called CMT1A, and

Connexin32 mutations, responsible for X-linked dominant CMT. In autosomal

recessive forms, characterized by an earlier age at onset and a more severe

disease course, the ethnic background, the clinical study with search for

associated signs, and sometimes histopathological examination are to be

considered.