Mitochondrial disease: genetics and management

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


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / physiopathology*
  • Mitochondrial Diseases / therapy*