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


CONCLUSIONS
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.
Nicolaou
Paschalis
P
Neurogenetics Department, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Zamba-Papanicolaou
Eleni
E
Koutsou
Pantelitsa
P
Kleopa
Kleopas A
KA
Georghiou
Anthi
A
Hadjigeorgiou
Georgios
G
Papadimitriou
Alexandros
A
Kyriakides
Theodoros
T
Christodoulou
Kyproula
K
D000328:Adult; D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000453:epidemiology* / Q000235:genetics*; D058674:Chromosome Duplication; D003535:Cyprus / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D015995:Prevalence
D009185:Myelin Proteins; C073687:PMP22 protein, human