Cerebellar Ataxia (Spinone Italiano Type)

Other Names: Canine Hereditary Ataxia, HA
Affected Genes: ITPR1
Inheritance: Autosomal Recessive
Mutation: chr20:12880740-12880742 (canFam3): large indel, variable repeat expansion
Breed(s): Spinone Italiano
Blood, Tissue, or PPG Swab Kit Required

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Common Symptoms

Cerebellar Ataxia (Spinone Italiano type) is an inherited neurological disease affecting dogs. Affected dogs present around 4 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, 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.

Testing Tips

Genetic testing of the ITPR1 gene 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. 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

  • 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]
  • Wheeler S, Rusbridge C. Neurological syndrome in Italian spinones. Vet Rec. 1996 Mar 2;138(9):216. [PubMed: 8686161]