Test Detail
Neuronal ceroid lipofuscinosis 1 (NCL1) - Cane Corso
Neurological · Dog
Neuronal ceroid lipofuscinosis 1 (NCL1) is an inherited lysosomal storage disease caused by variants in PPT1, which encodes palmitoyl-protein thioesterase. It produces accumulation of autofluorescent material in neurons and progressive degeneration of the central nervous system. In the Cane Corso, a splicing variant (c.124+1G>A) has been described in an affected dog, with progressive neurological and visual signs from an early age. Adjunctive test, not a substitute for clinical examination.
Incidence
Applicable breed: Cane Corso (Italian), in which the variant has been characterized. No population carrier frequencies have been published (limited data).
Breeder management
- Test Cane Corso breeding stock for the PPT1 c.124+1G>A variant before breeding
- Do not breed two carriers: 25 % affected homozygotes per litter
- The parents of an affected dog are obligate carriers; also test the litter
- A carrier may be bred to a clear individual; test the offspring intended for breeding
- Do not breed with affected or homozygous animals
- Communicate the status to the buyer and the veterinarian
- Do not breed two carriers: 25 % affected homozygotes per litter
- The parents of an affected dog are obligate carriers; also test the litter
- A carrier may be bred to a clear individual; test the offspring intended for breeding
- Do not breed with affected or homozygous animals
- Communicate the status to the buyer and the veterinarian
Specialist notes
Differential diagnosis with other degenerative ataxias and lysosomal storage diseases. The progressive visual and neurological signs of juvenile onset in the Cane Corso point to molecular testing. There is no curative treatment; management is supportive (physiotherapy and palliative care). The Cane Corso-specific PPT1 test should not be confused with other NCL variants (NCL5, NCL6, NCL7, NCL8, NCL12) or with PPT1-related photoreceptor dysplasia (OMIA:001311-9615).
References
1. Kolicheski A et al. (2017). Homozygous PPT1 splice donor mutation in a Cane Corso dog with neuronal ceroid lipofuscinosis. J Vet Intern Med 31:149-157. PMID: 28008682
2. Sanders DN et al. (2010). A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab 100:349-356. PMID: 20494602
3. Katz ML et al. (2017). Canine neuronal ceroid lipofuscinoses: promising models for preclinical testing of therapeutic interventions. Neurobiol Dis 108:277-287. PMID: 28860089
4. OMIA:001504-9615. Neuronal ceroid lipofuscinosis, 1 in Canis lupus familiaris. https://omia.org/OMIA001504/9615/
2. Sanders DN et al. (2010). A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab 100:349-356. PMID: 20494602
3. Katz ML et al. (2017). Canine neuronal ceroid lipofuscinoses: promising models for preclinical testing of therapeutic interventions. Neurobiol Dis 108:277-287. PMID: 28860089
4. OMIA:001504-9615. Neuronal ceroid lipofuscinosis, 1 in Canis lupus familiaris. https://omia.org/OMIA001504/9615/