Neuronal ceroid lipofuscinsosis 1 (NCL1) (cane corso type) is a rare lysosomal storage disease affecting dogs. NCL1 is due to a deficiency in the Enzyme palmitoyl protein thioesterase (PPT1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. The first clinical symptoms were reported at approximately 8 months of age and included difficulty seeing in low light. Within two months symptoms progressed to blindness, incoordination while walking, and lethargy. These symptoms rapidly become more severe and the dogs may be euthanized shortly after clinical signs appear.
Genetic testing of the PPT1 gene will reliably determine whether a dog is a genetic Carrier of neuronal ceroid lipofuscinosis 1 (cane corso type). Neuronal ceroid lipofuscinosis 1 (cane corso type) 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 PPT1 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.
Kolicheski A, Barnes Heller HL, Arnold S, Schnabel RD, Taylor JF, Knox CA,Mhlanga-Mutangadura T, O'Brien DP, Johnson GS, Dreyfus J, Katz ML. Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. J Vet Intern Med. 2017 Jan;31(1):149-157.