Cerebellar Cortical Degeneration
Affected Genes: SNX14
Inheritance: Autosomal Recessive
Variant(canFam6):
chr12:45345324: C>T
Breed: Vizsla
Wirehaired Vizsla
General Information: Cerebellar Cortical Degeneration (CCD), also known as Cerebellar Abiotrophy, is an inherited, progressive neurological disorder primarily known to affect Vizslas and Wirehaired Vizslas. This devastating condition typically manifests between 2 to 4 months of age, as the death of nerve cells in the cerebellum, a critical part of the brain responsible for coordinated movement, leads to rapid neurological deterioration. Clinical signs of CCD include head tremors, delayed or absent reflexes, and severe ataxia, which progressively worsen over weeks to months. Due to the rapid progression and significant impact on the quality of life, affected dogs are often euthanized shortly after the onset of symptoms. Early detection and understanding of this condition are crucial, as the disease leads to severe motor dysfunction, preventing affected dogs from leading a normal, healthy 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 for the SNX14 gene is essential for identifying the presence ofthe variants for Cerebellar Cortical Degeneration (CCD). This autosomal recessive disorder requires two copies of the mutated gene for a dog to be affected. Carrier dogs typically do not show symptoms, but breeding two carriers can produce affected pups, with each pup having a 25% chance of developing the disease. Genetic testing is essential for informed breeding practices to prevent the mutation. Breeding of two carrier dogs is not recommended.Non-carrier dogs have no increased risk of producing affected pups from this known variant.
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 17(1):123.