Neuronal Ceroid Lipofuscinosis 5 (NCL5 Golden Retriever)
N euronal c eroid lipofuscinosis 5 (NCL5) is a metabolism-induced neurodegenerative disease caused by a deletion of two base pairs in exon 4 of theCLN5gene. In this disease, the waste product of cell metabolism,ceroid lipofuscin, is stored in the cells and is not metabolised further. This accumulates in the nerve cells of the retina and brain. Affected animals therefore show symptoms such as visual disorders, balance disorders and later completely disoriented behaviour and physical degeneration.
The disease occurs in Golden Retrievers. The inheritance is autosomal recessive.
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Symptoms
- Visual disorders
- Blindness
- Balance disorders
- Deformed posture
- Seizures
- Behavioural changes (aggressiveness, anxiety)
- Disoriented behaviour
- Physical degeneration
General Information
- Neuronal ceroid lipofuscinosis 5 (NCL5) is a metabolic neurodegenerative disease.
- The waste product of cell metabolism, ceroid lipofuscin,is stored in the cells and not metabolised further.
- This leads to the deposition of ceroid lipofuscin in the brain and retina.
- The function of the nerve cells is severely damaged as a result.
- First symptoms appear at the age of 15 months.
- NCL5 cannot be treated, often affected animals are euthanised.
Breeds affected
Golden Retriever
Test information
This mutation test detects a deletion of two base pairs (c.934_935delAG) in exon 4 of the CLN5gene.
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Genotype and Lab Report
Inheritance: autosomal recessive
→ The disease only occurs if both alleles of the gene are affected by the mutation (ncl5/ncl5). Dogs that have only one allele with the causative mutation (N/ncl5) are clinically healthy carriers.
Genotypes:
N/N = genetically normal
The dog has no predispositions for NCL 5 and therefore cannot pass it on to its offspring.
N/ncl5 = a carrier
The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, who are also carriers.
ncl5/ncl5 = affected
The variation would be passed on 100% to the offspring. The animals do not reach breeding maturity.
Recommendations
- Carrier animals may be bred to normal animals (N/ncl5 x N/N). Before the offspring are used in breeding, they should be tested whether they are normal or carriers.
- Mating two carrier animals (N/ncl5 x N/ncl5) should be avoided as there is a 25% chance that the offspring will be affected.
- Affected animals (ncl5/ncl5) should be excluded from breeding if they reach breeding age.
Literature
Gilliam, D., Kolicheski, A., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Katz, M.L.: Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.Mol Genet Metab 115:101-9, 2015. Pubmed reference: 25934231. DOI: 10.1016/j.ymgme.2015.04.001
Further information is available at: Online Mendelian Inheritance in Animals.