Neuroaxonal Dystrophy (Spanish Water Dog Type)

Other Names: NAD
Affected Genes: TECPR2
Inheritance: Autosomal Recessive
Mutation: Point Mutation
Breed(s): Spanish Water Dog

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Common Symptoms

Neuroaxonal Dystrophy (Spanish water dog type) is an inherited progressive neurological disease affecting dogs. Affected dogs typically present between 6 months to 1 year of age with an abnormal gait, incontinence, and behavior changes including dullness, nervousness, and vocalization. Some dogs may also display vision loss and decreased muscle tone. Dogs are typically euthanized within a year of diagnosis due to disease progression.


Testing Tips

Genetic testing of the TECPR2 gene will reliably determine whether a dog is a genetic Carrier of neuroaxonal dystrophy (Spanish water dog type). Neuroaxonal dystrophy (Spanish water dog 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 TECPR2 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

  • Hahn K, Rohdin C, Jagannathan V, Wohlsein P, Baumgärtner W, Seehusen F, Spitzbarth I, Grandon R, Drögemüller C, Jäderlund KH. TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One. 2015 Nov 10;10(11). [PubMed: 26555167]