Ataxia (Norwegian Buhund Type)

Affected Genes: KCNIP4
Inheritance: Autosomal Recessive
Mutation: chr3:88890674 (canFam3): T/C
Breed(s): All Breeds

Add To Cart Search Tests

Common Symptoms

Ataxia (Norwegian buhund type) is an inherited progressive, early-onset neurological disease affecting dogs. Affected dogs present around 3 to 5 months of age with progressive neurological dysfunction due to nerve cell degeneration in a part of the brain known as the Cerebellum. The cerebellum plays an important role in controlling movement. Clinical signs include uncoordinated movement (ataxia), wide-based stance, high-stepping gait, poor balance, and head tremors. Though the speed of progression is variable, affected dogs are often euthanized due to quality-of-life concerns.


Testing Tips

Genetic testing of the KCNIP4 gene will reliably determine whether a dog is a genetic Carrier of Ataxia (Norwegian buhund type). Ataxia (Norwegian buhund type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the KCNIP4 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.


There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


References

  • Jenkins CA, Kalmar L, Matiasek K, Mari L, Kyosila K, Lohi H, Schofield EC, Mellersh CS, De Risio L, Ricketts SL. Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole genome sequencing two affected Norwegian Buhund dogs. Mamm Genome. 2015 Feb;26(1-2):108-17. doi: 10.1007/s00335-014-9547-6. Epub 2014 Oct 30. [PubMed: 31999692]