Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up

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 at...

Descripción completa

Detalles Bibliográficos
Autores: Pineda M, Montero R, Aracil A, O'Callaghan MM, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P, Artuch R
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2010
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p1273
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1273
Access Level:acceso abierto
Palabra clave:coenzyme Q(10) deficiency
mitochondrial disorders
ataxia
cerebellum
pediatric patients
id ES_1799f28e83f080fadd9afa258cc2ec7b
oai_identifier_str oai:fsjd.fundanetsuite.com:p1273
network_acronym_str ES
network_name_str España
repository_id_str
spelling Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-upPineda MMontero RAracil AO'Callaghan MMMas AEspinos CMartinez-Rubio DPalau FNavas PBriones PArtuch Rcoenzyme Q(10) deficiencymitochondrial disordersataxiacerebellumpediatric patientsWe 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. (C) 2010 Movement Disorder SocietyWILEY2010info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1273MOVEMENT DISORDERSISSN: 08853185ISSNe: 15318257reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p12732026-05-27T12:37:41Z
dc.title.none.fl_str_mv Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up
title Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up
spellingShingle Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up
Pineda M
coenzyme Q(10) deficiency
mitochondrial disorders
ataxia
cerebellum
pediatric patients
title_short Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up
title_full Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up
title_fullStr Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up
title_full_unstemmed Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up
title_sort Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up
dc.creator.none.fl_str_mv Pineda M
Montero R
Aracil A
O'Callaghan MM
Mas A
Espinos C
Martinez-Rubio D
Palau F
Navas P
Briones P
Artuch R
author Pineda M
author_facet Pineda M
Montero R
Aracil A
O'Callaghan MM
Mas A
Espinos C
Martinez-Rubio D
Palau F
Navas P
Briones P
Artuch R
author_role author
author2 Montero R
Aracil A
O'Callaghan MM
Mas A
Espinos C
Martinez-Rubio D
Palau F
Navas P
Briones P
Artuch R
author2_role author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv coenzyme Q(10) deficiency
mitochondrial disorders
ataxia
cerebellum
pediatric patients
topic coenzyme Q(10) deficiency
mitochondrial disorders
ataxia
cerebellum
pediatric patients
description 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. (C) 2010 Movement Disorder Society
publishDate 2010
dc.date.none.fl_str_mv 2010
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1273
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1273
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv WILEY
publisher.none.fl_str_mv WILEY
dc.source.none.fl_str_mv MOVEMENT DISORDERS
ISSN: 08853185
ISSNe: 15318257
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869403932126609408
score 15,81155

Similares en LA Referencia