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Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

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Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

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dc.contributor.author Sivera, Rafael es_ES
dc.contributor.author Sevilla, T. es_ES
dc.contributor.author Vílchez, Juan Jesús es_ES
dc.contributor.author Martínez-Rubio, Dolores es_ES
dc.contributor.author Chumillas, María José es_ES
dc.contributor.author Vázquez, Juan Francisco es_ES
dc.contributor.author Muelas, Nuria es_ES
dc.contributor.author Bataller, Luis es_ES
dc.contributor.author Millán, José María es_ES
dc.contributor.author Palau, Francesc es_ES
dc.contributor.author Espinós-Armero, Carmen Ángeles es_ES
dc.date.accessioned 2023-12-29T19:01:45Z
dc.date.available 2023-12-29T19:01:45Z
dc.date.issued 2013-10-29 es_ES
dc.identifier.uri http://hdl.handle.net/10251/201249
dc.description.abstract [EN] Objectives: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. Methods: A thorough genetic screening, including most of the known genes involved in this disease, was performed and analyzed in this longitudinal descriptive study. Clinical data were analyzed and compared among the genetic subgroups. Results: Molecular diagnosis was accomplished in 365 of 438 patients (83.3%), with a higher success rate in demyelinating forms of the disease. The CMT1A duplication (PMP22 gene) was the most frequent genetic diagnosis (50.4%), followed by mutations in the GJB1 gene (15.3%), and in the GDAP1 gene (11.5%). Mutations in 13 other genes were identified, but were much less frequent. Sixteen novel mutations were detected and characterized phenotypically. Conclusions: The relatively high frequency of GDAP1 mutations, coupled with the scarceness of MFN2 mutations (1.1%) and the high proportion of recessive inheritance (11.6%) in this series exemplify the particularity of the genetic distribution of Charcot-Marie-Tooth disease in this region. es_ES
dc.description.sponsorship This collaborative joint project is awarded by IRDiRC and funded by the Instituto de Salud Carlos III (ISCIII)-Subdireccion General de Evaluacion y Fomento de la Investigacion within the framework of the National R+D+I Plan (grants IR11/TREAT-CMT, PI08/90857, PI08/0889, CP08/00053, PI12/00453, and PI12/0946), cofunded with FEDER funds, and the Generalitat Valenciana (grant Prometeo/2009/051). The Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas (CIBERNED) and the Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER) are initiatives from the ISCIII. es_ES
dc.language Inglés es_ES
dc.publisher Ovid Technologies (Wolters Kluwer) - American Academy of Neurology es_ES
dc.relation.ispartof Neurology es_ES
dc.rights Reserva de todos los derechos es_ES
dc.subject Charcot-Marie-Tooth disease es_ES
dc.subject Genetic distribution es_ES
dc.subject GDAP1 es_ES
dc.subject.classification BIOLOGIA CELULAR es_ES
dc.title Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series es_ES
dc.type Artículo es_ES
dc.identifier.doi 10.1212/WNL.0b013e3182a9f56a es_ES
dc.relation.projectID info:eu-repo/grantAgreement/MICINN//CP08%2F00053/ES/CP08%2F00053/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/MICINN//PI08%2F90857/ES/RACIONALIZACIÓN DEL DIAGNÓSTICO MOLECULAR DE LAS ENFERMEDADES GENÉTICAS RARAS: EL MODELO DE LA NEUROPATÍA DE CHARCOT-MARIE-TOOTH/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/MINECO//PI12%2F00453/ES/Investigación traslacional y mecanismos de enfermedad en neuropatías periféricas hereditarias/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//IR11%2FTREAT-CMT//Translational Research, Experimental Medicine and Therapeutics on Charcot-Marie-Tooth disease / es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//PI08%2F90857/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//PI08%2F0889/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//CP08%2F00053/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//PI12%2F00453//Investigación traslacional y mecanismos de enfermedad en neuropatías periféricas hereditarias/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//PI12%2F0946/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/Conselleria d'Educació, Investigació, Cultura i Esport de la Generalitat Valenciana//Prometeo%2F2009%2F05/ es_ES
dc.rights.accessRights Abierto es_ES
dc.contributor.affiliation Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural es_ES
dc.description.bibliographicCitation Sivera, R.; Sevilla, T.; Vílchez, JJ.; Martínez-Rubio, D.; Chumillas, MJ.; Vázquez, JF.; Muelas, N.... (2013). Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series. Neurology. 81(18):1617-1625. https://doi.org/10.1212/WNL.0b013e3182a9f56a es_ES
dc.description.accrualMethod S es_ES
dc.relation.publisherversion https://doi.org/10.1212/WNL.0b013e3182a9f56a es_ES
dc.description.upvformatpinicio 1617 es_ES
dc.description.upvformatpfin 1625 es_ES
dc.type.version info:eu-repo/semantics/publishedVersion es_ES
dc.description.volume 81 es_ES
dc.description.issue 18 es_ES
dc.identifier.eissn 0028-3878 es_ES
dc.identifier.pmid 24078732 es_ES
dc.identifier.pmcid PMC3806911 es_ES
dc.relation.pasarela S\505803 es_ES
dc.contributor.funder Instituto de Salud Carlos III es_ES
dc.contributor.funder European Regional Development Fund es_ES
dc.contributor.funder Centro de Investigación Biomédica en Red de Enfermedades Raras es_ES
dc.contributor.funder Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas es_ES
dc.contributor.funder Conselleria d'Educació, Investigació, Cultura i Esport de la Generalitat Valenciana es_ES


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