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Current and emerging treatment options in the management of Friedreich ataxia

Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia. Oxidative damage within the mitochondria seems to have a key role in the disease phenotype. Therefore, FRDA treatment options have been mostly directed at antioxidant protection against mitochondrial damage. Available evidence s...

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Detalles Bibliográficos
Autores principales: Mancuso, Michelangelo, Orsucci, Daniele, Choub, Anna, Siciliano, Gabriele
Formato: Texto
Lenguaje:English
Publicado: Dove Medical Press 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2938298/
https://www.ncbi.nlm.nih.gov/pubmed/20856912
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author Mancuso, Michelangelo
Orsucci, Daniele
Choub, Anna
Siciliano, Gabriele
author_facet Mancuso, Michelangelo
Orsucci, Daniele
Choub, Anna
Siciliano, Gabriele
author_sort Mancuso, Michelangelo
collection PubMed
description Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia. Oxidative damage within the mitochondria seems to have a key role in the disease phenotype. Therefore, FRDA treatment options have been mostly directed at antioxidant protection against mitochondrial damage. Available evidence seems to suggest that patients with FRDA should be treated with idebenone, because it is well tolerated and may reduce cardiac hypertrophy and, at higher doses, also improve neurological function, but large controlled clinical trials are still needed. Alternatively, gene-based strategies for the treatment of FRDA may involve the development of small-molecules increasing frataxin gene transcription. Animal and human studies are strongly needed to assess whether any of the potential new treatment strategies, such as iron-chelating therapies or treatment with erythropoietin or histone deacetylase inhibitors and other gene-based strategies, may translate into an effective therapy for this devastating disorder. In this review, we try to provide an answer to some questions related to current and emerging treatment options in the management of FRDA.
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spelling pubmed-29382982010-09-20 Current and emerging treatment options in the management of Friedreich ataxia Mancuso, Michelangelo Orsucci, Daniele Choub, Anna Siciliano, Gabriele Neuropsychiatr Dis Treat Review Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia. Oxidative damage within the mitochondria seems to have a key role in the disease phenotype. Therefore, FRDA treatment options have been mostly directed at antioxidant protection against mitochondrial damage. Available evidence seems to suggest that patients with FRDA should be treated with idebenone, because it is well tolerated and may reduce cardiac hypertrophy and, at higher doses, also improve neurological function, but large controlled clinical trials are still needed. Alternatively, gene-based strategies for the treatment of FRDA may involve the development of small-molecules increasing frataxin gene transcription. Animal and human studies are strongly needed to assess whether any of the potential new treatment strategies, such as iron-chelating therapies or treatment with erythropoietin or histone deacetylase inhibitors and other gene-based strategies, may translate into an effective therapy for this devastating disorder. In this review, we try to provide an answer to some questions related to current and emerging treatment options in the management of FRDA. Dove Medical Press 2010-09-07 2010 /pmc/articles/PMC2938298/ /pubmed/20856912 Text en © 2010 Mancuso et al, publisher and licensee Dove Medical Press Ltd. This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited.
spellingShingle Review
Mancuso, Michelangelo
Orsucci, Daniele
Choub, Anna
Siciliano, Gabriele
Current and emerging treatment options in the management of Friedreich ataxia
title Current and emerging treatment options in the management of Friedreich ataxia
title_full Current and emerging treatment options in the management of Friedreich ataxia
title_fullStr Current and emerging treatment options in the management of Friedreich ataxia
title_full_unstemmed Current and emerging treatment options in the management of Friedreich ataxia
title_short Current and emerging treatment options in the management of Friedreich ataxia
title_sort current and emerging treatment options in the management of friedreich ataxia
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2938298/
https://www.ncbi.nlm.nih.gov/pubmed/20856912
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