Mitochondrial defects in basal ganglia diseases.
Mitochondrial DNA mutations are important causes of movement disorders and are often associated with basal ganglia degeneration. Leigh's disease and a form of generalized dystonia are caused by mitochondrial DNA mutations. Recent biochemical and genetic evidence suggests that some cases of Parkinson's disease may be caused by oxidative phosphorylation defects.
Shoffner
J M
JM
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
D001480:Basal Ganglia Diseases / Q000378:metabolism*; D006801:Humans; D008928:Mitochondria / Q000378:metabolism*; D009069:Movement Disorders / Q000378:metabolism; D010085:Oxidative Phosphorylation