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Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic Characteristics
dc.creator | Nicolaou, P. | en |
dc.creator | Zamba-Papanicolaou, E. | en |
dc.creator | Koutsou, P. | en |
dc.creator | Kleopa, K. A. | en |
dc.creator | Georghiou, A. | en |
dc.creator | Hadjigeorgiou, G. | en |
dc.creator | Papadimitriou, A. | en |
dc.creator | Kyriakides, T. | en |
dc.creator | Christodoulou, K. | en |
dc.date.accessioned | 2015-11-23T10:40:59Z | |
dc.date.available | 2015-11-23T10:40:59Z | |
dc.date.issued | 2010 | |
dc.identifier | 10.1159/000314351 | |
dc.identifier.issn | 0251-5350 | |
dc.identifier.uri | http://hdl.handle.net/11615/31359 | |
dc.description.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 (C) 2010 S. Karger AG, Basel | en |
dc.source.uri | <Go to ISI>://WOS:000283016400003 | |
dc.subject | Charcot-Marie-Tooth disease | en |
dc.subject | Neuropathy | en |
dc.subject | Genetic characteristics | en |
dc.subject | MOTOR-SENSORY NEUROPATHIES | en |
dc.subject | AUTOSOMAL-RECESSIVE FORMS | en |
dc.subject | HEREDITARY MOTOR | en |
dc.subject | PRESSURE PALSIES | en |
dc.subject | MUTATIONS | en |
dc.subject | LIABILITY | en |
dc.subject | FAMILIES | en |
dc.subject | MPZ | en |
dc.subject | DUPLICATION | en |
dc.subject | SEQUENCES | en |
dc.subject | Public, Environmental & Occupational Health | en |
dc.subject | Clinical Neurology | en |
dc.title | Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic Characteristics | en |
dc.type | journalArticle | en |
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