Autosomal-recessive Charcot-Marie-Tooth diseases

J Neuropathol Exp Neurol. 2005 May;64(5):363-70. doi: 10.1093/jnen/64.5.363.

Abstract

In certain countries around the Mediterranean basin such as Algeria, which have a high prevalence of consanguineous marriages, autosomal-recessive (AR) inheritance may account for more than 50% of all forms of Charcot-Marie-Tooth (CMT) disease. Like with the dominant forms, it is usual to differentiate the demyelinating forms (CMT 4 corresponding to autosomal-recessive CMT 1 [AR-CMT 1] from the axonal forms [AR-CMT 2]). Genetic analysis of large families with recessive transmission has uncovered novel CMT genotypes (genes: GDAP 1, MTMR 2, MTMR 13, KIAA1985, NDGR1, periaxi, lamin). The clinical and especially the histologic phenotypes often indicate that a specific gene is implicated. We present and discuss microscopic lesions seen on nerve biopsies from patients in a number of consanguineous Algerian families, and we outline the characteristic lesions that would prompt a search for mutations in genes such as MTMR 2, MTMR 13, KIAA1985, periaxin for CMT 4, and lamin for AR-CMT 2. Like with the dominant forms, there are undoubtedly many more mutations of other genes to be discovered.

Publication types

  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / classification*
  • Charcot-Marie-Tooth Disease / epidemiology
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Demyelinating Diseases / epidemiology
  • Demyelinating Diseases / genetics
  • Demyelinating Diseases / pathology
  • Genes, Recessive*
  • Humans
  • Mutation
  • Myelin Sheath / pathology
  • Myelin Sheath / ultrastructure