Hereditary Ataxia is a recently emerged neurodegenerative condition in Boykin Spaniels that appears to be a rare condition. The first signs shown by dogs with this neurodegenerative condition are weakness and loss of coordination in the hind limbs.  These signs progress slowly to involve the front legs and tremors of the head develop. Owners note a clear problem with gait within the first six months of life, though hind limb strength may be abnormal as early as eight weeks. 

A genetic mutation (SLC12A6) has been identified in association with the development of ataxia in Boykin Spaniels. 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, though as a relatively new disease the number of tested individuals is low. 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:

Boykin Spaniel Hereditary Ataxia = $48.00 per dog

Boykin Spaniel 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 cvm-cardiacgenetics@ncsu.edu 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 hereditary ataxia. 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 hereditary ataxia 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 variety within the population.