Hereditary cerebellar ataxia / HA (KCNIP4-related) - Norwegian Buhund

What does this test examine?

This genetic test analyses the KCNIP4 variant c.436T>C for KCNIP4-related cerebellar ataxia in the Norwegian Buhund. The condition is also known as cerebellar ataxia, hereditary ataxia, HA, KCNIP4-related ataxia, cerebellar degeneration. The test shows whether the dog is clear, a carrier or has two copies of the tested variant.

What does this condition mean?

KCNIP4 contributes to neuronal potassium-channel regulation. The tested missense variant affects a pathway that is important for cerebellar nerve-cell function, making movement control and balance especially vulnerable.

Affected dogs can develop progressive incoordination, tremor, loss of balance, an abnormal gait and difficulty with precise movement. The condition is useful to test before breeding because carriers can look healthy.

Practical value of this test

• reveals hidden carriers before they are used in breeding combinations
• helps avoid carrier-to-carrier matings and reduces the risk of puppies with neurological disease
• gives breeders concrete information to manage valuable lines responsibly
• supports targeted selection, litter planning and clear communication with puppy buyers or breed organisations
• can help recognise an inherited cause more quickly in young dogs with coordination problems

Who benefits from this test?

The test is especially valuable for breeders working with related lines, owners who want to know the genetic status of a breeding dog and veterinarians who want to place ataxia signs in a clearer genetic context. Knowing the result before mating allows a healthy carrier to be used responsibly without unintentionally producing affected puppies.

Inheritance and result

The condition is inherited as autosomal recessive. A dog without the variant will not pass on this specific variant. A carrier usually has no clear symptoms, but can pass the variant on. A dog with two copies develops the tested hereditary ataxia condition for this variant.