Journal
JOURNAL OF NEUROLOGY
Volume 263, Issue 1, Pages 179-191Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-015-7884-3
Keywords
Mitochondrial disease; Mitochondrial DNA (mtDNA); Nuclear genes; Acute and chronic neurological presentations; Treatment
Categories
Funding
- Wellcome Trust [074454/Z/04/Z]
- Newcastle University Centre for Ageing and Vitality - Biotechnology and Biological Sciences Research Council
- Newcastle University Centre for Ageing and Vitality - Medical Research Council [M501700]
- MRC Centre for Neuromuscular Disease
- UK NIHR Biomedical Research Centre for Ageing and Age-related disease award
- Lily Foundation
- UK NHS Specialist Commissioners
- MRC [MR/L016354/1] Funding Source: UKRI
- Medical Research Council [MR/L016354/1] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0514-10077] Funding Source: researchfish
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available
Share Paper
