Genetic epidemiology of Charcot-Marie-Tooth disease

Abstract

Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system with an estimated prevalence of 1 in 1214. CMT1 and CMT2 are equally frequent in the general population. The prevalence of PMP22 duplication and of mutations in Cx32, MPZ and MFN2 is 19.6%, 4.8%, 1.1% and 3.2%, respectively. The ratio of probable de novo mutations in CMT families was estimated to be 22.7%. Genotype- phenotype correlations for seven novel mutations in the genes Cx32 (2), MFN2 (3) and MPZ (2) are described. Two novel phenotypes were ascribed to the MFN2 gene, however further studies are needed to confirm that MFN2 mutations can cause CMT1 and dHMN.

Molecular and clinical features of inherited neuropathies due to PMP22 duplication

“…In dHMN there is usually no sensory affectation and neurophysiology will show predominantly motor findings with no sensory involvement [11].…”

“…These neuropathies display marked clinical and genetic heterogeneity [11]. Therefore the aim of this literature review focuses on the molecular mechanism and clinical features of inherited neuropathies caused by PMP22 duplication (CMT1A).…”

Autosomal dominant neuropathy of the axonal Charcot–Marie–Tooth type 2

“…This is especially so in cases manifesting in childhood [3]. Intermediate, partly axonal, partly demyelinating types, and X-chromosomal forms are discussed separately (see [4]. Genomic data from 36 unrelated Taiwanese CMT2 patients revealed 10 independent mutations in 14 patients: one each in AARS, HSPB1, and GDAP1, three in NEFL (six patients), and four in MFN2 (five patients).…”

Fenótipos Raros de Neuropatia Hereditária: Charcot-Marie-Tooth Tipo 4

“…CMT4H em geral tem início precoce (10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24) Até o presente a doença só foi descrita nessa família francesa com descendência argelina.…”