Neuropathological findings in a Staffordshire bull terrier with l-2-hydroxyglutaric aciduria
| Autor: | E Baines, W Blakemore, A. Williams, Emma Davies, Simon R. Platt, Sandra Schöniger, G B Cherubini, E. Scurrell |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Male
Pathology medicine.medical_specialty Cerebellum biology.animal_breed Thalamus DNA Mutational Analysis Grey matter Staffordshire bull terrier Pathology and Forensic Medicine Glutarates Dogs Fatal Outcome Euthanasia Animal Glial Fibrillary Acidic Protein medicine Animals Dog Diseases Cerebral Cortex General Veterinary medicine.diagnostic_test biology Glutaryl-CoA Dehydrogenase business.industry Brain Brain Diseases Metabolic Inborn Magnetic resonance imaging Magnetic Resonance Imaging medicine.anatomical_structure Cerebral cortex Astrocytes Mutation Vacuoles L-2-hydroxyglutaric aciduria Brainstem business Biomarkers |
| Zdroj: | Journal of comparative pathology. 138(2-3) |
| ISSN: | 0021-9975 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect