title: Glutamate dehydrogenase (GDH) deficiency in different types of progressive hereditary cerebellar ataxia.
abstract: Leukocyte glutamate dehydrogenase (GDH) was studied in 29 patients affected by progressive cerebellar ataxia (PCA) and in 20 healthy controls. Eight GDH-deficient patients, with GDH activity 2 SD below mean value of controls, were identified. GDH deficiency did not identify a subgroup of PCA by characteristic pattern of inheritance and/or age of onset of disease. However, the GDH-deficient patients presented more neurological signs than non-GDH-deficient patients. A significant correlation was observed between GDH deficiency and the presence of extrapyramidal signs, supranuclear palsy, absence of osteotendineal reflexes and neurogenic electromyographical findings.
authors.affiliation: II Neurological Clinic, University of Turin, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Orsi
authors.forename: A
authors.initials: A
authors.lastname: Bertolotto
authors.forename: F
authors.initials: F
authors.lastname: Brignolio
authors.forename: A
authors.initials: A
authors.lastname: Chiò
authors.forename: P
authors.initials: P
authors.lastname: Meineri
authors.forename: D
authors.initials: D
authors.lastname: Mittino
authors.forename: P
authors.initials: P
authors.lastname: Mortara
authors.forename: D
authors.initials: D
authors.lastname: Schiffer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002524:Cerebellar Ataxia / Q000201:enzymology* / Q000235:genetics / Q000276:immunology; D002648:Child; D005260:Female; D005969:Glutamate Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D008875:Middle Aged
chemical_list: D005969:Glutamate Dehydrogenase