alexa Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Molecular Biomarkers & Diagnosis

Author(s): Nicolaou P, ZambaPapanicolaou E, Koutsou P, Kleopa KA, Georghiou A, , Nicolaou P, ZambaPapanicolaou E, Koutsou P, Kleopa KA, Georghiou A, , Nicolaou P, ZambaPapanicolaou E, Koutsou P, Kleopa KA, Georghiou A, , Nicolaou P, ZambaPapanicolaou E, Koutsou P, Kleopa KA, Georghiou A,

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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. Copyright © 2010 S. Karger AG, Basel. This article was published in Neuroepidemiology and referenced in Journal of Molecular Biomarkers & Diagnosis

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