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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...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2014
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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. |
format | Online Article Text |
id | pubmed-4221650 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
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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