TY - JOUR
T1 - Charcot-marie-tooth disease in Cyprus
T2 - Epidemiological, clinical and genetic characteristics
AU - Nicolaou, Paschalis
AU - Zamba-Papanicolaou, Eleni
AU - Koutsou, Pantelitsa
AU - Kleopa, Kleopas A.
AU - Georghiou, Anthi
AU - Hadjigeorgiou, Georgios
AU - Papadimitriou, Alexandros
AU - Kyriakides, Theodoros
AU - Christodoulou, Kyproula
PY - 2010/10
Y1 - 2010/10
N2 - 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.
AB - 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.
KW - Charcot-Marie-Tooth disease
KW - Genetic characteristics
KW - Neuropathy
UR - http://www.scopus.com/inward/record.url?scp=77953676494&partnerID=8YFLogxK
U2 - 10.1159/000314351
DO - 10.1159/000314351
M3 - Article
C2 - 20571287
AN - SCOPUS:77953676494
SN - 0251-5350
VL - 35
SP - 171
EP - 177
JO - Neuroepidemiology
JF - Neuroepidemiology
IS - 3
ER -