Neuronal Ceroid Lipofuscinosis 1 (Cane Corso Type)

General Information: Neuronal Ceroid Lipofuscinosis 1 (NCL1) in the Cane Corso is a severe genetic condition caused by a deficiency in the enzyme palmitoyl protein thioesterase (PPT1), leading to the accumulation of storage materials in cells, particularly affecting the brain and nervous system. Symptoms typically begin to appear around 8 months of age, starting with diminished vision in low light conditions and quickly progressing to complete blindness, significant coordination issues, and general lethargy. The rapid advancement of these symptoms often leads to severe neurological decline, with affected dogs becoming unable to manage daily activities within a few months of the onset of symptoms. Due to the progressive and debilitating nature of the disease, affected dogs are frequently euthanized early in life to prevent prolonged suffering.

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 Neuronal Ceroid Lipofuscinosis 1 (NCL1) in the Cane Corso involves analyzing the PPT1 gene to identify carriers or affected individuals. This condition follows an autosomal recessive inheritance pattern, meaning that a dog must inherit two copies of the faulty gene, one from each parent, to exhibit symptoms of the disease. Dogs carrying only one copy of the gene (carriers) do not show any symptoms but can pass the mutation to their offspring. Breeding two carriers results in a 25% chance of producing affected puppies and a 50% chance of producing more carriers. Therefore, responsible breeding practices necessitate genetic testing to identify carriers and prevent the mating of two carriers, which helps in reducing the incidence of this lethal condition in the breed. Non-carrier dogs, or those bred from at least one non-carrier parent, will not produce affected offspring, emphasizing the importance of genetic testing in maintaining healthy breeding lines. Moreover, because NCL1 can arise from different mutations, a normal test result for one gene does not rule out other genetic diseases, underlining the need for comprehensive genetic screening.