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Review
. 2016 Jan;263(1):179-91.
doi: 10.1007/s00415-015-7884-3. Epub 2015 Aug 28.

Mitochondrial disease: genetics and management

Yi Shiau Ng  1 , Doug M Turnbull  2
Affiliations
Review

Mitochondrial disease: genetics and management

Yi Shiau Ng et al. J Neurol. 2016 Jan.

Abstract

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.

Keywords: Acute and chronic neurological presentations; Mitochondrial DNA (mtDNA); Mitochondrial disease; Nuclear genes; Treatment.

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Figures

Fig. 1
Fig. 1
Axial FLAIR (a, b) and DWI (c, d) sequences of MRI head. a and c were performed on admission whilst b and d were performed 8 days later. The stroke-like lesion ‘spread’ from the right occipital lobe to the right temporal lobe and thalamus
See this image and copyright information in PMC

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