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.
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 PMP22S22F 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.
Authors: José Berciano; Antonio García; Elena Gallardo; Kristien Peeters; Ana L Pelayo-Negro; Silvia Álvarez-Paradelo; José Gazulla; Miriam Martínez-Tames; Jon Infante; Albena Jordanova Journal: J Neurol Date: 2017-03-31 Impact factor: 4.849
Authors: Tania López-Hernández; Margreet C Ridder; Marisol Montolio; Xavier Capdevila-Nortes; Emiel Polder; Sònia Sirisi; Anna Duarri; Uwe Schulte; Bernd Fakler; Virginia Nunes; Gert C Scheper; Albert Martínez; Raúl Estévez; Marjo S van der Knaap Journal: Am J Hum Genet Date: 2011-03-17 Impact factor: 11.025
Authors: Viorica Chelban; Matthew P Wilson; Jodi Warman Chardon; Jana Vandrovcova; M Natalia Zanetti; Eleni Zamba-Papanicolaou; Stephanie Efthymiou; Simon Pope; Maria R Conte; Giancarlo Abis; Yo-Tsen Liu; Eloise Tribollet; Nourelhoda A Haridy; Juan A Botía; Mina Ryten; Paschalis Nicolaou; Anna Minaidou; Kyproula Christodoulou; Kristin D Kernohan; Alison Eaton; Matthew Osmond; Yoko Ito; Pierre Bourque; James E C Jepson; Oscar Bello; Fion Bremner; Carla Cordivari; Mary M Reilly; Martha Foiani; Amanda Heslegrave; Henrik Zetterberg; Simon J R Heales; Nicholas W Wood; James E Rothman; Kym M Boycott; Philippa B Mills; Peter T Clayton; Henry Houlden Journal: Ann Neurol Date: 2019-07-01 Impact factor: 10.422
Authors: Barbara W van Paassen; Anneke J van der Kooi; Karin Y van Spaendonck-Zwarts; Camiel Verhamme; Frank Baas; Marianne de Visser Journal: Orphanet J Rare Dis Date: 2014-03-19 Impact factor: 4.123