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Cerebellar Cortical Degeneration (Hungarian Vizsla Type)

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Test Overview:

Since CCD is autosomal recessive: Do not breed affected dogs (P/P) to prevent affected litters. Avoid breeding two carriers (N/P x N/P) due to the 25% risk of affected puppies. Breed carriers only to clear (N/N) dogs; this yields 50% carriers and 50% clear puppies but no affected puppies. Genetic testing for the SNX14 mutation is available and strongly recommended for Hungarian Vizsla breeding stock. Testing helps identify carriers to inform responsible breeding decisions while maintaining genetic diversity.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

SNX14

Variant Detected:

c.2653+1G>A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the SNX14 gene will reliably determine if a dog is a genetic carrier of cerebellar cortical degeneration.

Research Citation(s):

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]

Associated Breed(s):

Hungarian Vizsla, Hungarian Wirehaired Vizsla, Mixed Breed,

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