A neurological perspective on mitochondrial disease.
Disruption of the most fundamental cellular energy process, the mitochondrial respiratory chain, results in a diverse and variable group of multisystem disorders known collectively as mitochondrial disease. The frequent involvement of the brain, nerves, and muscles, often in the same patient, places neurologists at the forefront of the interesting and challenging process of diagnosing and caring for these patients. Mitochondrial diseases are among the most frequently inherited neurological disorders, and can be caused by mutations in mitochondrial or nuclear DNA. Substantial progress has been made over the past decade in understanding the genetic basis of these disorders, with important implications for the general neurologist in terms of the diagnosis, investigation, and multidisciplinary management of these patients.
McFarland
Robert
R
Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.
Taylor
Robert W
RW
Turnbull
Douglass M
DM
D004272:DNA, Mitochondrial / Q000235:genetics; D019468:Disease Management; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D009422:Nervous System Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D015995:Prevalence
D004272:DNA, Mitochondrial