An autosomal recessive, lethal, neurologic disease of Gordon Setter puppies

This report details clinical, necropsy, and pedigree data on an inherited, lethal, neurologic disease of young Gordon Setters. This disorder is charac terized by an early age of onset, gait and postural abnormalities, progress ive weakness, and recumbency by 5-6 weeks of age. Although clinically disti nctive, postmortem changes in affected pups were minimal. Gross lesions wer e not observed. Microscopic changes were subtle and consisted of astrocyte swelling, primarily in the cerebrocortical and cerebellar white matter, and white matter tracts of the brainstem. Immunohistochemistry for glial fibri llary acidic protein revealed a marked increase in the number and staining intensity of astrocyte cytoplasmic processes in affected pups compared with age-matched controls. Neither cerebral inflammation nor neuronal necrosis was identified. Pedigree analysis of affected Litters demonstrated an autos omal recessive mode of inheritance. A diagnosis of this heritable disease s hould be based on the early age of onset (3-4 weeks of age), characteristic clinical signs, rapid progression to recumbency by 5-6 weeks of age, ident ification of swollen astrocytes primarily in the cerebellar and cerebrocort ical white matter and white matter tracts of the brainstem, and the exclusi on of other disease processes.