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mtDNA disease for the neurologist

Lookup NU author(s): Dr Victoria Nesbitt, Professor Roger Whittaker, Emeritus Professor Doug Turnbull, Professor Bobby McFarlandORCiD, Professor Robert Taylor


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Inherited and acquired mutations of mtDNA cause an extraordinary group of diseases that are associated with a diverse panoply of neurological and non-neurological features. These diseases are surprisingly common and are often severely debilitating and readily transmitted through families. Remarkable advances in understanding molecular mechanisms have been made since the first pathogenic mtDNA mutations were identified in 1988, and while widely available genetic techniques have facilitated diagnosis, the complexities of mitochondrial genetics leave the neurologist facing important challenges in recognizing, managing and counseling patients with mtDNA mutations. In this article, we will discuss the clinical phenotypes associated with mtDNA disease, current diagnostic strategies, disease management and genetic counseling, as well as presenting new developments in preventing disease transmission and secondary complications. © 2011 Future Medicine Ltd.

Publication metadata

Author(s): Nesbitt V, Whittaker R, Turnbull D, McFarland R, Taylor R

Publication type: Review

Publication status: Published

Journal: Future Neurology

Year: 2011

Volume: 6

Issue: 1

Pages: 63-80

Print publication date: 01/01/2011

ISSN (print): 1479-6708

ISSN (electronic): 1748-6971


DOI: 10.2217/fnl.10.70