Cerebellar Ataxia (CA) (Spinone Italiano Type)

General Information: Cerebellar Ataxia (CA) (Spinone Italiano Type) is an inherited neurological disease known to affect Spinone Italiano dogs. Puppies appear normal at birth but begin showing signs of incoordination and loss of balance around 4 months of age due to the degeneration of nerve cells in the cerebellum, the brain region responsible for movement control. Symptoms include uncoordinated movement (ataxia), a wide-based stance, high-stepping gait, abnormal eye movements, poor balance, loss of the menace response (blink reflex), and head tremors, which progressively worsen. The disease advances rapidly, often resulting in the inability to stand by one year of age, leading to euthanasia due to poor quality of life.

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 of the ITPR1 gene can identifythe presence of variants responsible for Cerebellar Ataxia (CA) (Spinone Italiano Type). This disorder is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for a dog to be affected. Carrier dogs, with only one copy of the mutation, do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, there is a 25% chance of producing affected puppies and a 50% chance of producing carriers. To prevent this disease, it is recommended not to breed two carriers. Dogs testing negative for the mutation do not pose a risk of producing affected puppies, ensuring healthier breeding practices and reducing the prevalence of Cerebellar Ataxia in the population.