Clinical features of inherited cerebellar degeneration in Gordon setters

We evaluated a kindred of Gordon Setters affected with inherited ataxia. Six adults and 4 pups clinically affected by the disease were examined. Pathologic studies were performed on a 3-year-old affected female dog and on a 2-month-old pup born to affected parents. The dogs were normal at birth; the 1st signs of neurologic dysfunction (wide-based stance and hypermetria) appeared between 6 and 10 months of age. As the disease progressed, increased tone of the extensor musculature, truncal ataxia, and nystagmus were noted. The disease had a slowly progressive course. The pathologic abnormalities were limited to the cortex of the cerebellum. There was atrophy with loss of Purkinje cells and granule cells affecting predominantly the vermis and paravermian regions of lobules IV, V, and VI. The study of the pedigree and our observations of the progeny of 2 affected dogs indicated that the mode of inheritance of this ataxia is compatible with an autosomal recessive trait.