Cerebellar Cortical Degeneration

Cerebellar cortical degeneration is a neurodegenerative disease characterized by progressive cerebellar ataxia that may be caused by the presence of alterations in the SNX14 gene.

Symptoms

The disease usually manifests in the first months of a dog's life, although there may be variations depending on the breed. It is characterized by the degeneration of neurons of the Purkinje layer, as well as other nerve cells that are part of the cerebellum and constitute the granular and molecular layer.

Disease Management

In the event that a dog shows any symptoms of cerebellar ataxia or any other condition, it is important to see a veterinarian as soon as possible for a complete clinical evaluation.

Genetic basis

This disease follows an autosomal recessive mode of inheritance. Autosomal recessive inheritance means that the dog, regardless of sex, must receive two copies of the mutation or pathogenic variant to be at risk of developing the disease. Both parents of an affected dog must carry at least one copy of the mutation. Animals with only one copy of the mutation are not at increased risk of developing the disease, but may pass the mutation on to future generations. Breeding between dogs carrying genetic variants that can cause disease, even if they do not show symptoms, is not recommended.

Technical report

The SNX14 gene produces a protein that is highly conserved among different species and is involved in synaptic transmission. The variant studied here in SNX14 is c.2653 + 1G > A which affects the splicing process by altering exon 26 of the gene.

Most affected breeds

Vizsla

Bibliography

Bryant D, Seda M, Peskett E,et al. Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. Sci Rep. 2020 Aug 13;10(1):13763.

Fenn J, Boursnell M, Hitti RJ,et al. 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.