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ANO10 mutations cause ataxia and coenzyme Q(10) deficiency

Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for pa...

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Autores principales: Balreira, Andrea, Boczonadi, Veronika, Barca, Emanuele, Pyle, Angela, Bansagi, Boglarka, Appleton, Marie, Graham, Claire, Hargreaves, Iain P., Rasic, Vedrana Milic, Lochmüller, Hanns, Griffin, Helen, Taylor, Robert W., Naini, Ali, Chinnery, Patrick F., Hirano, Michio, Quinzii, Catarina M., Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221650/
https://www.ncbi.nlm.nih.gov/pubmed/25182700
http://dx.doi.org/10.1007/s00415-014-7476-7
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author Balreira, Andrea
Boczonadi, Veronika
Barca, Emanuele
Pyle, Angela
Bansagi, Boglarka
Appleton, Marie
Graham, Claire
Hargreaves, Iain P.
Rasic, Vedrana Milic
Lochmüller, Hanns
Griffin, Helen
Taylor, Robert W.
Naini, Ali
Chinnery, Patrick F.
Hirano, Michio
Quinzii, Catarina M.
Horvath, Rita
author_facet Balreira, Andrea
Boczonadi, Veronika
Barca, Emanuele
Pyle, Angela
Bansagi, Boglarka
Appleton, Marie
Graham, Claire
Hargreaves, Iain P.
Rasic, Vedrana Milic
Lochmüller, Hanns
Griffin, Helen
Taylor, Robert W.
Naini, Ali
Chinnery, Patrick F.
Hirano, Michio
Quinzii, Catarina M.
Horvath, Rita
author_sort Balreira, Andrea
collection PubMed
description Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherited ataxia. In two patients with adult-onset cerebellar ataxia and coenzyme Q(10) (CoQ(10)) deficiency in muscle, whole exome sequencing revealed mutations in ANO10, which encodes anoctamin 10, a member of a family of putative calcium-activated chloride channels, and the causative gene for autosomal recessive spinocerebellar ataxia-10 (SCAR10). Both patients presented with slowly progressive ataxia and dysarthria leading to severe disability in the sixth decade. Epilepsy and learning difficulties were also present in one patient, while retinal degeneration and cataract were present in the other. The detection of mutations in ANO10 in our patients indicate that ANO10 defects cause secondary low CoQ(10) and SCAR10 patients may benefit from CoQ(10) supplementation. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00415-014-7476-7) contains supplementary material, which is available to authorized users.
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spelling pubmed-42216502014-11-11 ANO10 mutations cause ataxia and coenzyme Q(10) deficiency Balreira, Andrea Boczonadi, Veronika Barca, Emanuele Pyle, Angela Bansagi, Boglarka Appleton, Marie Graham, Claire Hargreaves, Iain P. Rasic, Vedrana Milic Lochmüller, Hanns Griffin, Helen Taylor, Robert W. Naini, Ali Chinnery, Patrick F. Hirano, Michio Quinzii, Catarina M. Horvath, Rita J Neurol Original Communication Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherited ataxia. In two patients with adult-onset cerebellar ataxia and coenzyme Q(10) (CoQ(10)) deficiency in muscle, whole exome sequencing revealed mutations in ANO10, which encodes anoctamin 10, a member of a family of putative calcium-activated chloride channels, and the causative gene for autosomal recessive spinocerebellar ataxia-10 (SCAR10). Both patients presented with slowly progressive ataxia and dysarthria leading to severe disability in the sixth decade. Epilepsy and learning difficulties were also present in one patient, while retinal degeneration and cataract were present in the other. The detection of mutations in ANO10 in our patients indicate that ANO10 defects cause secondary low CoQ(10) and SCAR10 patients may benefit from CoQ(10) supplementation. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00415-014-7476-7) contains supplementary material, which is available to authorized users. Springer Berlin Heidelberg 2014-09-03 2014 /pmc/articles/PMC4221650/ /pubmed/25182700 http://dx.doi.org/10.1007/s00415-014-7476-7 Text en © The Author(s) 2014 https://creativecommons.org/licenses/by/4.0/ Open AccessThis article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Original Communication
Balreira, Andrea
Boczonadi, Veronika
Barca, Emanuele
Pyle, Angela
Bansagi, Boglarka
Appleton, Marie
Graham, Claire
Hargreaves, Iain P.
Rasic, Vedrana Milic
Lochmüller, Hanns
Griffin, Helen
Taylor, Robert W.
Naini, Ali
Chinnery, Patrick F.
Hirano, Michio
Quinzii, Catarina M.
Horvath, Rita
ANO10 mutations cause ataxia and coenzyme Q(10) deficiency
title ANO10 mutations cause ataxia and coenzyme Q(10) deficiency
title_full ANO10 mutations cause ataxia and coenzyme Q(10) deficiency
title_fullStr ANO10 mutations cause ataxia and coenzyme Q(10) deficiency
title_full_unstemmed ANO10 mutations cause ataxia and coenzyme Q(10) deficiency
title_short ANO10 mutations cause ataxia and coenzyme Q(10) deficiency
title_sort ano10 mutations cause ataxia and coenzyme q(10) deficiency
topic Original Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221650/
https://www.ncbi.nlm.nih.gov/pubmed/25182700
http://dx.doi.org/10.1007/s00415-014-7476-7
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