Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics

Neuroepidemiology. 2010;35(3):171-7. doi: 10.1159/000314351. Epub 2010 Jun 23.


Background: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: a demyelinating and an axonal type. Further subdivisions within these 2 main categories exist and intermediate forms have more recently been described. Inheritance can be autosomal dominant, recessive or X-linked. CMT is associated with more than 30 loci, and about 25 causative genes have been described thus far.

Methods: We studied epidemiological, clinical and genetic characteristics of CMT in the Cypriot population.

Results: The prevalence of CMT in Cyprus on January 15, 2009, is estimated to be 16 per 100,000. Thirty-three families and 8 sporadic patients were ascertained. CMT was demyelinating in 52%, axonal in 33% and intermediate in 15% of the patients. Thirteen families had PMP22 duplication, 3 families had the PMP22 S22F mutation, 4 families had GJB1/Cx32 mutations, 2 families had different MPZ mutations, 1 of them novel, and 2 families had different MFN2 mutations. Nine families and 8 sporadic patients were excluded from the common CMT genes.

Conclusion: The most frequent CMT mutation worldwide, the PMP22 duplication, is also the most frequent CMT mutation in the Cypriot population. Five out of the 8 other mutations are novel, not reported in other populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Charcot-Marie-Tooth Disease / epidemiology*
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Duplication*
  • Cyprus / epidemiology
  • Female
  • Gene Frequency
  • Genetics, Population
  • Humans
  • Male
  • Myelin Proteins / genetics*
  • Pedigree
  • Point Mutation*
  • Prevalence


  • Myelin Proteins
  • PMP22 protein, human