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Hereditary Ataxia (Norwegian Buhund type)

Ataxia in Norwegian Buhunds is a genetic neurodegenerative disorder marked by progressive movement and coordination difficulties due to cerebellar dysfunction.

Affected Genes: KCNIP4

Inheritance: Autosomal Recessive

Variant(canFam6):
chr3:91349931: T>C

Breed: Norwegian Buhund

General Information: Ataxia in Norwegian Buhunds typically manifests between 3 to 5 months of age. Characterized by a progressive loss of coordination and movement control, his condition is rooted in cerebellar ataxia. Affected dogs exhibit symptoms such as a wide-based stance, hypermetria (high-stepping gait), head tremors, and a general lack of coordination. These symptoms arise from the degeneration of nerve cells in the cerebellum, which is crucial for motor control and balance. The progression of symptoms varies but generally leads to significant quality-of-life issues, often resulting in early euthanasia.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Ataxia in Norwegian Buhunds targets mutations in the KCNIP4 gene, which is crucial for normal nerve function in the cerebellum. This autosomal recessive disorder requires two copies of the mutated gene for a dog to be affected. Carrier dogs typically do not show symptoms, but breeding two carriers can produce affected pups, with each pup having a 25% chance of developing the disease. Genetic testing is essential for informed breeding practices to prevent the mutation. Breeding of two carrier dogs is not recommended. Non-carrier dogs have no increased risk of producing affected pups from this known variant. Genetic testing is vital for identifying carriers and managing breeding decisions to reduce the prevalence of this debilitating condition in the breed. Dogs tested negative for this mutation are not at risk of having affected offspring from this known variant.

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 26(1-2):108-117.