Autosomal recessive forms of Charcot-Marie-Tooth disease

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Bull Acad Natl Med. 2005 Jan;189(1):55-68;

Autosomal recessive forms of Charcot-Marie-Tooth disease

Vallat JM, Grid D, Magdelaine C, Sturtz F, Levy N, Tazir M.

Service de Neurologie, CHU Dupuytren, 2 Avenue Luther King,

87042 Limoges, France.

In some countries with a high prevalence of consanguineous mariage,

autosomal recessive inheritance probably accounts for the vast

majority of all forms of CMT. Like dominant forms, autosomal

recessive forms are generally subdivided into demyelinating forms

(autosomal recessive CMT1: AR-CMT1 or CMT4) and axonal forms (AR-

CMT2). Genetic analysis of large families with recessive transmission

has identified several novel CMT-related genes (GDAP1, MTMR2, MTMR13,

KIAA1985, NDGR1, periaxin and lamin).

Given the clinical, electrophysiological and histological

heterogeneity of this disease, numerous culprit genes probably remain

to be discovered, leading to an even more complex classification.

Clinical and histological features often point to the involvement of

a particular gene. Nerve biopsy and molecular studies can contribute

to the diagnosis, but this approach is highly time-consuming and can

only be performed in specialized laboratories.