Cerebellar Cortical Degeneration

Other Names: Cerebellar Abiotrophy, CA, CCD
Affected Genes: SNX14
Inheritance: Autosomal Recessive
Mutation: chr12:45530566-45530566: G/A
Breed(s): Vizsla, Wirehaired Vizsla

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Common Symptoms

Cerebellar cortical degeneration is an inherited, progressive neurological disease affecting Vizslas. Affected dogs present around 2 to 4 months of age with rapidly progressive neurological dysfunction due to death of nerve cells in a part of the brain known as the Cerebellum, which plays an important role in coordinated movement. Clinical signs include head tremors, delayed or absent reflexes, and uncoordinated movements (Ataxia) which become progressively more severe over weeks to months. Affected dogs are often euthanized due to quality of life concerns within a few weeks of the initial clinical signs.


Testing Tips

Genetic testing of the SNX14 gene will reliably determine whether a dog is a genetic Carrier of cerebellar cortical degeneration. Cerebellar cortical degeneration 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 SNX14 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

  • Fenn J, Boursnell M, Hitti RJ, Jenkins CA, Terry RL, Priestnall SL, Kenny PJ, Mellersh CS, Forman OP. Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet. 2016 Aug 26;17(1):123. doi: 10.1186/s12863-016-0433-y. [PubMed: 27566131]