title: Neuropathological findings in a Staffordshire bull terrier with l-2-hydroxyglutaric aciduria.
abstract: l-2-Hydroxyglutaric aciduria (l-2-HGA) is a hereditary neurometabolic disorder reported in human beings and dogs. An 11-month-old Staffordshire bull terrier was suspected to have the disease, on the basis of clinical signs and magnetic resonance imaging findings. l-2-HGA was confirmed by urinary organic analysis and DNA testing and the dog was humanely destroyed. Post-mortem findings consisted only of microscopical lesions in the brain, characterized by marked spongiform changes and predominantly affecting the grey matter of the cerebral cortex, thalamus, cerebellum and brainstem. The spongiform changes were characterized by well-demarcated, clear vacuoles located at perineuronal and perivascular sites. Immunohistochemical and ultrastructural examination confirmed that the affected cells were astrocytes.
authors.affiliation: Department of Pathology and Infectious Diseases, The Royal Veterinary College, UK. escurrell@rvc.ac.uk
authors.forename: E
authors.initials: E
authors.lastname: Scurrell
authors.forename: E
authors.initials: E
authors.lastname: Davies
authors.forename: E
authors.initials: E
authors.lastname: Baines
authors.forename: G B
authors.initials: GB
authors.lastname: Cherubini
authors.forename: S
authors.initials: S
authors.lastname: Platt
authors.forename: W
authors.initials: W
authors.lastname: Blakemore
authors.forename: A
authors.initials: A
authors.lastname: Williams
authors.forename: S
authors.initials: S
authors.lastname: Schöniger
mesh_terms: D000818:Animals; D001253:Astrocytes / Q000378:metabolism / Q000648:ultrastructure; D015415:Biomarkers / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000378:metabolism / Q000473:pathology / Q000662:veterinary*; D002540:Cerebral Cortex / Q000378:metabolism / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D004283:Dog Diseases / Q000235:genetics / Q000473:pathology* / Q000652:urine; D004285:Dogs; D037901:Euthanasia, Animal; D017809:Fatal Outcome; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D005977:Glutarates / Q000652:urine; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D008279:Magnetic Resonance Imaging / Q000662:veterinary; D008297:Male; D009154:Mutation; D014617:Vacuoles / Q000648:ultrastructure
chemical_list: D015415:Biomarkers; D005904:Glial Fibrillary Acidic Protein; D005977:Glutarates; C019417:alpha-hydroxyglutarate; D050770:Glutaryl-CoA Dehydrogenase