diagnosis of hereditary neuropathies such as CMT

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Abstract from Rev Neurol (Paris). 2004 Feb;160(2):181-7.

[Molecular diagnosis of hereditary neuropathies such as

Charcot-Marie-Tooth disease

Pouget J.

Service de Neurologie et maladies neuromusculaires, Hopital

Universitaire de La Timone, Marseille.

During the last decade, molecular biology has demonstrated the

extraordinary heterogeneity of genetic abnormalities in

Charcot-Marie-Tooth disease (CMT). The main phenotypes are either of the

demyelinating or axonal type, transmitted with dominant or recessive

autosomal inheritance. X-linked CMT is less rare than it was initially

described and is often misdiagnosed as autosomal dominant type. Linked

phenotypes are Dejerine-Sottas disease, congenital hypomyelinization and

hereditary neuropathy with susceptibility to pressure palsies. Each

phenotype can be due to different genotypes and concerned genes are

numerous. Conversely, each genotype can express different phenotypes.

Molecular diagnostic strategy of CMT is mainly baised on three elements:

- phenotypic expertise which is based on the analysis of the inheritance

mode and on electrophysiological data, which are peculiar in CMTX -

knowledge of respective occurrence of the different genotypes and

phenotypes which is increasing - technical feasibility of molecular

biology methods which is important to consider, even though progress are

fastly coming. According to these considerations, a strategy is proposed

for molecular diagnosis of CMT.