Lookup NU author(s): Dr Yi Ng,
Professor Doug Turnbull
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
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.
Author(s): Ng YS, Turnbull DM
Publication type: Article
Publication status: Published
Journal: Journal of Neurology
Print publication date: 01/01/2016
Online publication date: 28/08/2015
Acceptance date: 18/08/2015
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Springer Medizin
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