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. 2014 Oct 17;30(6):999–1009. doi: 10.1007/s12264-014-1475-7

Intermediate Charcot-Marie-Tooth disease

Lei Liu 1, Ruxu Zhang 1,✉
PMCID: PMC5562560  PMID: 25326399

Abstract

Charcot-Marie-Tooth (CMT) disease is a common neurogenetic disorder and its heterogeneity is a challenge for genetic diagnostics. The genetic diagnostic procedures for a CMT patient can be explored according to the electrophysiological criteria: very slow motor nerve conduction velocity (MNCV) (<15 m/s), slow MNCV (15–25 m/s), intermediate MNCV (25–45 m/s), and normal MNCV (>45 m/s). Based on the inheritance pattern, intermediate CMT can be divided into dominant (DI-CMT) and recessive types (RI-CMT). GJB1 is currently considered to be associated with X-linked DI-CMT, and MPZ, INF2, DNM2, YARS, GNB4, NEFL, and MFN2 are associated with autosomal DI-CMT. Moreover, GDAP1, KARS, and PLEKHG5 are associated with RI-CMT. Identification of these genes is not only important for patients and families but also provides new information about pathogenesis. It is hoped that this review will lead to a better understanding of intermediate CMT and provide a detailed diagnostic procedure for intermediate CMT.

Keywords: Charcot-Marie-Tooth disease, intermediate CMT, dominant type CMT, recessive type CMT, diagnostic procedure

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