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dc.contributor.author | Pineda, Merce![]() |
es_ES |
dc.contributor.author | Montero, Raquel![]() |
es_ES |
dc.contributor.author | Aracil, Asunción![]() |
es_ES |
dc.contributor.author | O'Callaghan, Mar M.![]() |
es_ES |
dc.contributor.author | Mas, Ana![]() |
es_ES |
dc.contributor.author | Espinós-Armero, Carmen Ángeles![]() |
es_ES |
dc.contributor.author | Martínez-Rubio, Dolores![]() |
es_ES |
dc.contributor.author | Palau, Francesc![]() |
es_ES |
dc.contributor.author | Navas, Placido![]() |
es_ES |
dc.contributor.author | Briones, Paz![]() |
es_ES |
dc.contributor.author | Artuch, Rafael![]() |
es_ES |
dc.date.accessioned | 2023-12-28T19:02:40Z | |
dc.date.available | 2023-12-28T19:02:40Z | |
dc.date.issued | 2010-07-15 | es_ES |
dc.identifier.uri | http://hdl.handle.net/10251/201222 | |
dc.description.abstract | [EN] We assessed the clinical outcome after coenzyme Q(10) (CoQ(10)) therapy in 14 patients presenting ataxia classified into two groups according to CoQ(10) values in muscle (deficient or not). We performed an open-label prospective study: patients were evaluated clinically (international cooperative ataxia rating scale [ICARS] scale, MRI, and videotape registration) at baseline and every 6 months during a period of 2 years after CoQ(10) treatment (30 mg/kg/day). Patients with CoQ(10) deficiency showed a statistically significant reduction of ICARS scores (Wilcoxon test: P = 0.018) after 2 years of CoQ(10) treatment when compared with baseline conditions. In patients without CoQ(10) deficiency, no statistically significant differences were observed in total ICARS scores after therapy, although I patient from this group showed a remarkable clinical amelioration. Biochemical diagnosis of CoQ(10) deficiency was a useful tool for the selection of patients who are good candidates for treatment as all of them responded to therapy. However, the remarkable clinical response in I case without CoQ(10) deficiency highlights the importance of treatment trials for identification of patients with CoQ(10)-responsive ataxia. | es_ES |
dc.description.sponsorship | This work was supported by grants from the Fondo de Investigacion Sanitaria (FIS PI080663 and PI080307). The CIBERER is an initiative of the Instituto de Salud Carlos III (ISCIII MICIN, Spain). We are grateful to patients and their families for their kind collaboration and to Professor Di Mauro for the critical revision of the article. We acknowledge Dr. M. Lluch for fibroblast cultures and the expert technical assistance of Sonia Moliner. R. Artuch is supported by the program Intensificacion de la Actividad Investigadora (ISCIII). The research activity of M. Pineda, A. Aracil, A. Mas, P. Navas, and P. Briones was funded by Fondo de Investigacion Sanitaria and CSIC. R. Montero, M.M. O'Callaghan, D. Martinez, and F. Palau were funded by the CIBERER. C. Espinos has a "Miguel Servet" contract (FIS). | es_ES |
dc.language | Inglés | es_ES |
dc.publisher | John Wiley & Sons | es_ES |
dc.relation.ispartof | Movement Disorders | es_ES |
dc.rights | Reserva de todos los derechos | es_ES |
dc.subject | Coenzyme Q10 deficiency | es_ES |
dc.subject | Mitochondrial disorders | es_ES |
dc.subject | Ataxia | es_ES |
dc.subject | Cerebellum | es_ES |
dc.subject | Pediatric patients | es_ES |
dc.subject.classification | BIOLOGIA CELULAR | es_ES |
dc.title | Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up | es_ES |
dc.type | Artículo | es_ES |
dc.identifier.doi | 10.1002/mds.23129 | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/ISCIII//FIS PI08%2F0663 / | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/ISCIII//FIS PI08%2F0307/ | es_ES |
dc.rights.accessRights | Cerrado | 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 | Pineda, M.; Montero, R.; Aracil, A.; O'callaghan, MM.; Mas, A.; Espinós-Armero, CÁ.; Martínez-Rubio, D.... (2010). Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up. Movement Disorders. 25(9):1262-1268. https://doi.org/10.1002/mds.23129 | es_ES |
dc.description.accrualMethod | S | es_ES |
dc.relation.publisherversion | https://doi.org/10.1002/mds.23129 | es_ES |
dc.description.upvformatpinicio | 1262 | es_ES |
dc.description.upvformatpfin | 1268 | es_ES |
dc.type.version | info:eu-repo/semantics/publishedVersion | es_ES |
dc.description.volume | 25 | es_ES |
dc.description.issue | 9 | es_ES |
dc.identifier.eissn | 0885-3185 | es_ES |
dc.identifier.pmid | 20629161 | es_ES |
dc.relation.pasarela | S\505794 | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | Consejo Superior de Investigaciones Científicas | es_ES |
dc.contributor.funder | Centro de Investigación Biomédica en Red de Enfermedades Raras | es_ES |