[Autosomal recessive forms of Charcot-Marie-Tooth disease]

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.