Mitochondrial disease: genetics and management

Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. Whilst multi-system involvement is often evident, neurological manifestation is the principal presentation in most cases. The multiple clinical phenotypes and the...

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Detalles Bibliográficos
Autores principales: Ng, Yi Shiau, Turnbull, Doug M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Neurological Update
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723631/
https://www.ncbi.nlm.nih.gov/pubmed/26315846
http://dx.doi.org/10.1007/s00415-015-7884-3
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author Ng, Yi Shiau
Turnbull, Doug M.
author_facet Ng, Yi Shiau
Turnbull, Doug M.
author_sort Ng, Yi Shiau
collection PubMed
description Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. Whilst multi-system involvement is often evident, neurological manifestation is the principal presentation in most cases. The multiple clinical phenotypes and the involvement of both the mitochondrial and nuclear genome make mitochondrial disease particularly challenging for the clinician. In this review article we cover mitochondrial genetics and common neurological presentations associated with adult mitochondrial disease. In addition, specific and supportive treatments are discussed.
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spelling pubmed-47236312016-02-02 Mitochondrial disease: genetics and management Ng, Yi Shiau Turnbull, Doug M. J Neurol Neurological Update Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. Whilst multi-system involvement is often evident, neurological manifestation is the principal presentation in most cases. The multiple clinical phenotypes and the involvement of both the mitochondrial and nuclear genome make mitochondrial disease particularly challenging for the clinician. In this review article we cover mitochondrial genetics and common neurological presentations associated with adult mitochondrial disease. In addition, specific and supportive treatments are discussed. Springer Berlin Heidelberg 2015-08-28 2016 /pmc/articles/PMC4723631/ /pubmed/26315846 http://dx.doi.org/10.1007/s00415-015-7884-3 Text en © The Author(s) 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Neurological Update
Ng, Yi Shiau
Turnbull, Doug M.
Mitochondrial disease: genetics and management
title Mitochondrial disease: genetics and management
title_full Mitochondrial disease: genetics and management
title_fullStr Mitochondrial disease: genetics and management
title_full_unstemmed Mitochondrial disease: genetics and management
title_short Mitochondrial disease: genetics and management
title_sort mitochondrial disease: genetics and management
topic Neurological Update
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723631/
https://www.ncbi.nlm.nih.gov/pubmed/26315846
http://dx.doi.org/10.1007/s00415-015-7884-3
work_keys_str_mv AT ngyishiau mitochondrialdiseasegeneticsandmanagement
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