Juvenile onset
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Clinical signs of ataxia and head tremors may be seen as early as 12 weeks of age and progress over time. Exaggerated movements, loss of balance, and an inability to regulate rate and range of movement may be seen as the condition progresses. The affected puppies have a normal state of alertness.
Because of the severity of the clinical signs, affected puppies are usually euthanized at a young age on welfare grounds.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to develop. A carrier dog with one copy of the Hereditary Ataxia mutation can be safely bred with a clear dog with no copies of the Hereditary Ataxia mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Hereditary Ataxia mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the Hereditary Ataxia mutation could develop due to a different genetic or clinical cause.
| Gene | KCNIP4 |
|---|---|
| Variant | T>C |
| Chromosome | 3 |
| Coordinate | 88,890,674 |
All coordinates reference CanFam3.1
Mari, L., Matiasek, K., Jenkins, C. A., De Stefani, A., Ricketts, S. L., Forman, O., & De Risio, L. (2018). Hereditary ataxia in four related Norwegian buhunds. Journal of the American Veterinary Medical Association. View the article
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