- -

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

RiuNet: Institutional repository of the Polithecnic University of Valencia

Share/Send to

Cited by

Statistics

  • Estadisticas de Uso

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

Show simple item record

Files in this item

dc.contributor.author Sivera, Rafael es_ES
dc.contributor.author Espinós-Armero, Carmen Ángeles es_ES
dc.contributor.author Vílchez, Juan J. es_ES
dc.contributor.author Mas, Fernando es_ES
dc.contributor.author Martínez-Rubio, Dolores es_ES
dc.contributor.author Chumillas, María José es_ES
dc.contributor.author Mayordomo, Fernando es_ES
dc.contributor.author Muelas, Nuria es_ES
dc.contributor.author Bataller, Luis es_ES
dc.contributor.author Palau, Francesc es_ES
dc.contributor.author Sevilla, Teresa es_ES
dc.date.accessioned 2023-12-28T19:02:24Z
dc.date.available 2023-12-28T19:02:24Z
dc.date.issued 2010-12 es_ES
dc.identifier.uri http://hdl.handle.net/10251/201215
dc.description.abstract [EN] Mutations in the ganglioside-induced-differentiation-associated protein 1 gene (GDAP1) can cause Charcot-Marie-Tooth (CMT) disease with demyelinating (CMT4A) or axonal forms (CMT2K and ARCMT2K). Most of these mutations present a recessive inheritance, but few autosomal dominant GDAP1 mutations have also been reported. We performed a GDAP1 gene screening in a clinically well-characterized series of 81 index cases with axonal CMT neuropathy, identifying 17 patients belonging to 4 unrelated families in whom the heterozygous p.R120W was found to be the only disease-causing mutation. The main objective was to fully characterize the neuropathy caused by this mutation. The clinical picture included a mild-moderate phenotype with onset around adolescence, but great variability. Consistently, ankle dorsiflexion and plantar flexion were impaired to a similar degree. Nerve conduction studies revealed an axonal neuropathy. Muscle magnetic resonance imaging studies demonstrated selective involvement of intrinsic foot muscles in all patients and a uniform pattern of fatty infiltration in the calf, with distal and superficial posterior predominance. Pathological abnormalities included depletion of myelinated fibers, regenerative clusters and features of axonal degeneration with mitochondrial aggregates. Our findings highlight the relevance of dominantly transmitted p.R120W GDAP1 gene mutations which can cause an axonal CMT with a wide clinical profile. es_ES
dc.description.sponsorship We are grateful to the propositi and their relatives for their kind collaboration. We also want to thank I. Llopis and M. Escutia for their help with sample management. This work was supported by the Instituto de Salud Carlos III [PI08/90857, PI08/0889, CP08/00053 and PS09/00095], the Fundacion para la Investigacion del Hospital Universitari La Fe [CM06/00154], the Spanish Ministry Science and Innovation [grant number SAF2006-01047], and the Generalitat Valenciana [grant no. Prometeo/2009/05]. Dr. C. Espinos has a "Miguel Servet'' contract funded by the Fondo de Investigacion Sanitaria. Both Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER) and Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas (CIBERNED) are initiatives from the Instituto de Salud Carlos III. es_ES
dc.language Inglés es_ES
dc.publisher Blackwell Publishing es_ES
dc.relation.ispartof Journal of the Peripheral Nervous System es_ES
dc.rights Reserva de todos los derechos es_ES
dc.subject ADCMT es_ES
dc.subject Charcot-Marie-Tooth disease es_ES
dc.subject CMT2K es_ES
dc.subject GDAP1 mutations es_ES
dc.subject.classification BIOLOGIA CELULAR es_ES
dc.title Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease es_ES
dc.type Artículo es_ES
dc.identifier.doi 10.1111/j.1529-8027.2010.00286.x 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/MICINN//PS09%2F00095/ES/BASES GENETICAS Y FISIOPATOLOGIA CELULAR DE LAS NEUROPATIAS PERIFERICAS HEREDITARIAS/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/MSC//CM06%2F00154/ES/CM06%2F00154/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/FIS//Miguel Servet/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//CP08%2F00053/ 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//PS09%2F00095//Bases genéticas y fisiopatología celular de las neuropatías periféricas hereditarias/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/MICINN//SAF2006-01047/ 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.; Espinós-Armero, CÁ.; Vílchez, JJ.; Mas, F.; Martínez-Rubio, D.; Chumillas, MJ.; Mayordomo, F.... (2010). Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. Journal of the Peripheral Nervous System. 15(4):334-344. https://doi.org/10.1111/j.1529-8027.2010.00286.x es_ES
dc.description.accrualMethod S es_ES
dc.relation.publisherversion https://doi.org/10.1111/j.1529-8027.2010.00286.x es_ES
dc.description.upvformatpinicio 334 es_ES
dc.description.upvformatpfin 344 es_ES
dc.type.version info:eu-repo/semantics/publishedVersion es_ES
dc.description.volume 15 es_ES
dc.description.issue 4 es_ES
dc.identifier.eissn 1085-9489 es_ES
dc.identifier.pmid 21199105 es_ES
dc.relation.pasarela S\505814 es_ES
dc.contributor.funder Instituto de Salud Carlos III es_ES
dc.contributor.funder Ministerio de Sanidad y Consumo es_ES
dc.contributor.funder Fondo de Investigaciones Sanitarias es_ES
dc.contributor.funder Ministerio de Ciencia e Innovación es_ES
dc.contributor.funder Conselleria d'Educació, Investigació, Cultura i Esport de la Generalitat Valenciana es_ES


This item appears in the following Collection(s)

Show simple item record