Neuronal Ceroid Lipofuscinosis 12

Other Names: Late-onset Neuronal Ceroid Lipofuscinosis, NCL12
Affected Genes: ATP13A2
Inheritance: Autosomal Recessive
Mutation: chr2:81208162 (canFam3): C/T
Breed(s): Australian Cattle Dog, Australian Stumpy Tail Cattle Dog, Miniature Australian Cattle Dog

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Common Symptoms

Neuronal ceroid lipofuscinosis 12 is an inherited lysosomal storage disease affecting dogs. Affected dogs have abnormalities in cellular metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system. Affected dogs present with progressive neurological disease around 6 years of age which may include abnormal gait, anxiety, decreased or absent reflexes, lack of response to learned commands, sensitivity to sounds, sleep problems, inappropriate vocalization, difficulty jumping or climbing stairs, aggression, tremors, seizures, weakness, loss of coordination, and vision loss. Affected dogs typically die or are humanely euthanized by 9 years of age.

Testing Tips

Genetic testing of the ATP13A2 gene will reliably determine whether a dog is a genetic Carrier of neuronal ceroid lipofuscinosis 12. Neuronal ceroid lipofuscinosis 12 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 ATP13A2 gene mutation. Reliable genetic testing is important for determining breeding practices. Because symptoms do not appear until adulthood, genetic testing should be performed before breeding. 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

  • Schmutz I, Jagannathan V, Bartenschlager F, Stein VM, Gruber AD, Leeb T, Katz ML. ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Mol Genet Metab. 2019 May;127(1):95-106. doi: 10.1016/j.ymgme.2018.11.015. [PubMed: 30956123]