Autosomal recessive forms of Charcot-Marie-Tooth disease.
In some countries with a high prevalence of consanguineous marriages, autosomal recessive inheritance is likely to account for the great majority of all forms of Charcot-Marie-Tooth (CMT) disease. As with the dominant forms, it is usual to differentiate the demyelinating forms (autosomal recessive -CMT1 or AR-CMT4) from the axonal forms (AR-CMT2). Genetic analysis of large families with recessive transmission has proved to be an efficient mean of discovering novel CMT genotypes (eg, the genes GDAP1, MTMR2, MTMR13, KIAA1985, NDGR1, periaxin, and lamin). Because of the clinical, electrophysiologic, and histologic heterogeneity of these patients, it is likely that there are numerous genes that remain to be discovered, which will probably make classification even more complex. Clinical, and especially histologic, phenotypes often lead to a suspicion that a specific gene is implicated. There is, therefore, an indication for nerve biopsy to orient diagnostic research in molecular biology, which is presently very time consuming and can only be performed in highly specialized laboratories.
Service de Neurologie, CHU Dupuytren, 2 Avenue Martin Luther King, 87042 Limoges Cedex, France. vallat@unilim.fr
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D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D002877:Chromosomes, Human; D003241:Consanguinity; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D007223:Infant; D019083:Mediterranean Region; D010641:Phenotype