title: Update on nuclear mitochondrial genes and neurologic disorders.
abstract: The majority of primary mitochondrial disorders are due to nuclear gene mutations, not aberrations within the mitochondrial genome. The nervous system is frequently involved due to its high-energy demands. Many nonspecific neurologic symptoms may be present in mitochondrial disease; however, there are well-recognized red flags that should alert the clinician to the possibility of mitochondrial disease. There is an ever increasing number of nuclear gene mutations discovered that play a role in primary mitochondrial disease and its neurologic symptomatology. Neurologists need to be aware of the wide neurologic presentation, the red-flag symptoms, and the nuclear gene mutations involved in the pathophysiology of mitochondrial disease to diagnose and manage this patient population.
authors.affiliation: Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA. amy.goldstein@chp.edu
authors.forename: Amy
authors.initials: A
authors.lastname: Goldstein
authors.forename: Poonam
authors.initials: P
authors.lastname: Bhatia
authors.forename: Jodie M
authors.initials: JM
authors.lastname: Vento
mesh_terms: D002467:Cell Nucleus / Q000235:genetics*; D050259:Genes, Mitochondrial / Q000235:genetics*; D006801:Humans; D028361:Mitochondrial Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009422:Nervous System Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*