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.