Test Detail
Neuronal Ceroid Lipofuscinosis 5 (NCL5) — Golden Retriever, Border Collie and Australian Cattle Dog
Neurological · Dog
Neuronal ceroid lipofuscinoses (NCL) are neurodegenerative lysosomal diseases characterized by the accumulation of ceroid lipofuscin (autofluorescent) in neurons and other tissues. The form described in the Golden Retriever is classified within type 5, related to the CLN5 gene. It produces progressive neurological deterioration with behavioral changes, ataxia, seizures and blindness, leading to death or euthanasia. There is no treatment and its control is based on avoiding crosses of carriers.
Incidence
Rare disease, described mainly in Golden Retriever lines from North America and Europe. There are no reliable carrier frequency figures published in a consolidated manner (limited data). Its low current prevalence is explained in part by the use of the test in breeding animals of affected lines.
Breeder management
- Test breeding animals from lines with a history of early neurodegenerative disease
- Never cross carrier with carrier: 25% risk of affected puppies in each litter
- A carrier can be crossed with a clear individual, keeping only clear offspring for breeding if you seek to eliminate the allele
- In a young dog with behavioral changes and progressive ataxia, request neurological study and consider genetic testing
- Record the results alongside the pedigree and communicate them to the breed club
- Never cross carrier with carrier: 25% risk of affected puppies in each litter
- A carrier can be crossed with a clear individual, keeping only clear offspring for breeding if you seek to eliminate the allele
- In a young dog with behavioral changes and progressive ataxia, request neurological study and consider genetic testing
- Record the results alongside the pedigree and communicate them to the breed club
Specialist notes
The differential diagnosis includes other canine NCLs, idiopathic epilepsy, non-ceroid storage diseases and inflammatory or degenerative encephalopathies. Classical confirmation relies on biopsy (PAS-positive and autofluorescent material in tissues) and today on the DNA test. There is no effective treatment; management is palliative (antiepileptics, environmental enrichment, control of household risks). Genetic counseling to the family of the index case is essential: both parents are carriers.
References
1. Gilliam D et al. 2015, deleción de dos pares de bases y cambio de marco en CLN5 en Golden retriever con NCL (PMID 25934231)
2. Kolicheski A et al. 2016, Australian Cattle Dogs con NCL son homocigotos para una mutación sin sentido de CLN5 previamente identificada en Border Collie (PMID 27203721)
3. Melville SA et al. 2005, una mutación en CLN5 canino causa lipofuscinosis neuronal ceroide en Border collie (PMID 16033706)
4. OMIA:001482 NCL5 (CLN5)
2. Kolicheski A et al. 2016, Australian Cattle Dogs con NCL son homocigotos para una mutación sin sentido de CLN5 previamente identificada en Border Collie (PMID 27203721)
3. Melville SA et al. 2005, una mutación en CLN5 canino causa lipofuscinosis neuronal ceroide en Border collie (PMID 16033706)
4. OMIA:001482 NCL5 (CLN5)