Common Symptoms
Hereditary Ataxia (Australian Shepherd Type) is a progressive, early onset, inherited disease affecting dogs. Dogs with this disease present between 4 to 19 months of age with an uncoordinated gait and loss of balance. As the disease progresses, affected dogs develop a “prancing” gait with exaggerated and stiff movements, frequently falling. With time, dogs have difficulty standing and walking without assistance and are usually euthanized by 4 years of age due to a poor quality of life.
Testing Tips
Genetic testing of the PNPLA8 gene will reliably determine whether a dog is a genetic Carrier of Hereditary Ataxia (Australian Shepherd Type). This disease 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 PNPLA8 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
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Abitbol M, Jagannathan V, Laurent N, Noblet E, Dutil GF, Troupel T, de Dufaure de Citres C, Gache V, Blot S, Escriou C, Leeb T. A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia. Anim Genet. 2022 Oct;53(5):709-712.
[PubMed: 35864734]
