CMT in Cyprus: Epidemiological, Clinical and Genetic Characteristics

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Neuroepidemiology. 2010 Jun 23;35(3):171-177

Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic

Characteristics.

Nicolaou P, Zamba-Papanicolaou E, Koutsou P, Kleopa KA, Georghiou A,

Hadjigeorgiou G, Papadimitriou A, Kyriakides T, Christodoulou K.

Neurogenetics Department, Cyprus Institute of Neurology and Genetics, Nicosia,

Cyprus.

Abstract

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.