This report describes general characteristics of the mitochondrial diseases originally described as Leigh syndrome (LS) or Leigh disease. Mutations implicated in Leigh syndrome have been identified in both mitochondrial-encoded genes and nuclear-encoded genes involved in mitochondrial function. Diseases originally described as subtypes of Leigh syndrome and associated with nuclear-encoded gene have been renamed and reclassified with designations corresponding to the complex of the mitochondrial respiratory chain that is affected.
[updated Feb. 2021 by FlyBase; FBrf0222196]
The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity. [from NORD, Leigh Syndrome; 2016.08.12]
Leigh syndrome is an early-onset progressive neurodegenerative disorder; clinical symptoms depend on which areas of the central nervous system are involved. [from MIM:256000; 2016.01.06]
Leigh syndrome is a genetically heterogeneous disorder, with at least 15 implicated genes identified. [from MIM:256000; 2016.01.06]
Characteristic neuropathology consists of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. [from MIM:256000; 2016.01.06]
Mutations have been identified in both nuclear- and mitochondrial-encoded genes involved in energy metabolism, including mitochondrial respiratory chain complexes I, II, III, IV, and V, which are involved in oxidative phosphorylation and the generation of ATP, and components of the pyruvate dehydrogenase complex. [from MIM:256000; 2016.01.06]
