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

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

Author information

1
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.

PMID:
20571287
DOI:
10.1159/000314351
[Indexed for MEDLINE]

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