Neuronal Ceroid Lipofuscinosis 8 (Setter Type)

Other Names: Amaurotic idiocy, Batten disease, NCL, NCL8
Affected Genes: CLN8
Inheritance: Autosomal Recessive
Mutation: Point Mutation
Breed(s): English Setter, Gordon Setter

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Common Symptoms

Neuronal ceroid lipofuscinosis 8 (Setter type) is a lysosomal storage disease affecting dogs. Affected dogs lack a specific Enzyme necessary for normal metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs typically present with mental dullness between 14 to 18 months of age. Progressive loss of vision, lack of muscle coordination and an abnormally stiff gait are noticed shortly thereafter. Within a few months of disease onset, seizures begin and are often the cause of death in an affected dog. Death or euthanasia usually occurs by 2 years of age.


Testing Tips

Genetic testing of the CNL8 gene will reliably determine whether a dog is a genetic Carrier of neuronal ceroid lipofuscinosis 8. Neuronal ceroid lipofuscinosis 8 (Setter 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 CNL8 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.


References

  • Katz ML, Khan S, Awano T, Shahid SA, Siakotos AN, Johnson GS. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun. 2005 Feb 11; 327(2):541-7. [PubMed: 15629147]
  • Koppang N. English setter model and juvenile ceroid-lipofuscinosis I n man. Am J Med Genet. 1992 Feb 15;42(4):599-604. [PubMed: 1609842]
  • Koppang N. The English setter with ceroid-lipofuscinosis: a suitable model for the juvenile type of ceroid-lipofuscinosis in humans. Am J Med Genet Suppl. 1988;5:117-25. [PubMed: 3146311]