Cerebellar degeneration is a form of inherited ataxia. This neurodegenerative condition is associated with gradual death of neurons in the cerebellum, which causes a progressive loss of coordination. Dogs will have a hallmark ataxic gait characterized by dramatic overstepping, particularly obvious in the forelimbs. As signs progress, dogs develop an intention tremor of their head and an obvious sway to their trunk as they walk. Onset of signs ranges from six months to four years of age and disease progression varies between dogs, but tends to be slow. Clinical signs progress over several years and ultimately results in an inability to walk without falling and difficulty in eating and drinking.

A genetic mutation (RAB24) has been identified in association with the development of cerebellar degeneration in Gordon Setters. This is a recessive condition, so dogs that have only one copy of the gene do not develop clinical signs. To the best of our knowledge, 100% of dogs with two copies of the gene have developed clinical signs. If a dog is negative or heterozygous for this mutation but has signs of cerebellar disease, it is likely due to another cause.

Testing Prices:

Gordon Setter Cerebellar Degeneration = $48.00 per dog

Gordon Setter Litter Discount = $38.00 per puppy

Sample Type for Submission:

Acceptable samples include a cheek swab or 1-2 mL whole blood collected in an EDTA tube. If these sample types are unavailable, please reach out to us at [email protected] for more information. Alternative sample types may result in an additional charge.

Explanation of Results:

Two copies of each gene are inherited, one from each parent. Possible results include:

Negative

Dogs have two copies of the normal gene, which is not associated with the development of cerebellar degeneration. They cannot transmit this mutation to their offspring.

Positive Heterozygous

Dogs have one copy of the normal gene and one copy of the mutated gene. Dogs will not show clinical signs as this is a recessive disorder. However, dogs may be able to transmit a mutation copy of the gene to their offspring.

Positive Homozygous

Dogs have two copies of the mutated gene, which is associated with cerebellar degeneration and the development of clinical signs. They will transmit one copy of the mutation to their offspring.

Other factors could contribute to this condition in dogs, and a negative result does not rule out the presence of a different mutation that could cause a similar genetic disorder or trait.

Breeding Recommendations:

Breeding decisions should be made carefully and in discussion with your veterinarian. We cannot give specific breeding recommendations regarding your dog, but we advise to consider these genetic results as well as the overall health of the line. The goal is to reduce the prevalence of these disease-associated mutations while maintaining high quality biological variety within the population.