Common Symptoms
Cerebellar Ataxia (Spinone Italiano type) is an inherited neurological disease affecting Italian spinoni. Affected dogs present around 4 months of age with progressive neurological dysfunction primarily due to nerve cell degeneration of a part of the brain known as the Cerebellum, which plays an important role in coordinated movement. Clinical signs include uncoordinated movement (ataxia), wide-based stance, high-stepping gait, abnormal eye movements, poor balance, loss of menace response (a type of blink reflex), and head tremors which become more severe over time. Though the speed of progression is variable, affected dogs may be unable to stand by one year of age and are often euthanized due to quality-of-life concerns.
Breed-Specific Information for the Spinone Italiano
The Mutation of the ITPR1 gene associated with cerebellar Ataxia (Spinone Italiano type) has been identified in the Spinone Italiano, although its overall frequency in this breed is unknown.
Testing Tips
Genetic testing of the ITPR1 gene in Italian spinoni will reliably determine whether a dog is a genetic Carrier of cerebellar Ataxia (Spinone Italiano type). Cerebellar ataxia (Spinone Italiano 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 ITPR1 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. Italian spinoni 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
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Forman OP, De Risio L, Matiasek K, Platt S, Mellersh C. Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mamm Genome. 2015 Feb;26(1-2):108-17. doi: 10.1007/s00335-014-9547-6. Epub 2014 Oct 30.
[PubMed: 25354648]
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Wheeler S, Rusbridge C. Neurological syndrome in Italian spinones. Vet Rec. 1996 Mar 2;138(9):216.
[PubMed: 8686161]
