NeuroradiologyMitochondrial disease
a group of conditions responsible for various types of neurodegenerative disorders, together with
peroxisomal disorder and
lysosomal disease.
Mitochondria are DNA-containing organelles, located in the cytoplasm of the cell; their main role is synthesis of adenosine triphosphate, ATP, the main source of energy for the cell. They produce numerous enzyme, mainly involved in the oxidative respiratory cycle (Krebs cycle). Deficiency of these enzymes cause various types of diseases with multiorgan involvement, including the white or grey matter of the brain, or both.
Some of the most common and better defined mitochodrial encephalopathies are listed below:
Leigh disease (
subacute necrotizing encephalomyelopathy)
MELAS (mitochondrial encephalomyelopathy, lactic acidosis and stroke-like episodes)
MERRF syndrome (myoclonic epilepsy with ragged red fibres)
Kearns Sayre disease Alpers disease Menkes diseaseGS