title: Leucocyte glutamate dehydrogenase in various hereditary ataxias.
abstract: Leucocyte Glutamate Dehydrogenase (GDH) activity was measured in 44 patients with various forms of ataxia and 44 age and sex-matched normal controls. The only significant change found was a moderate decrease in activity in Friedreich's ataxia and a few patients with OPCA. This decreased activity is not primary to the disease but probably reflects a regulatory defect affecting mitochondrial membranes in these patients.
mesh_terms: D001259:Ataxia / Q000201:enzymology / Q000235:genetics*; D001284:Atrophy; D001927:Brain Diseases / Q000201:enzymology; D002526:Cerebellar Diseases / Q000201:enzymology; D005621:Friedreich Ataxia / Q000201:enzymology; D005969:Glutamate Dehydrogenase / Q000097:blood*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D009128:Muscle Spasticity / Q000201:enzymology / Q000235:genetics; D009847:Olivary Nucleus
chemical_list: D005969:Glutamate Dehydrogenase