Neuroaxonal Dystrophy (Papillon Type)

Other Names: NAD
Affected Genes: PLA2G6
Inheritance: Autosomal Recessive
Mutation: Point Mutation
Breed(s): Papillon, Phalene

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Common Symptoms

Neuroaxonal dystrophy (papillon type) is an inherited neurological disease affecting dogs. Affected dogs typically present between 1-4 months of age with an abnormal gait, hindlimb weakness, and incoordination. The disease rapidly progresses to complete paralysis, blindness, and inability to eat. Affected dogs may also exhibit tremors, loss of hearing, and extension of limbs. Dogs are typically euthanized within a few months of showing clinical signs due to the severity of the disease.


Testing Tips

Genetic testing of the PLA2G6 gene will reliably determine whether a dog is a genetic Carrier of neuroaxonal dystrophy (papillon type). Neuroaxonal dystrophy (papillon 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 PLA2G6 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

  • Diaz JV, Duque C, Geisel R. Neuroaxonal dystrophy in dogs: case report in 2 litters of Papillon puppies. J Vet Intern Med. 2007 May-Jun;21(3):531-4. [PubMed: 17552463]
  • Nibe K, Kita C, Morozumi M, Awamura Y, Tamura S, Okuno S, Kobayashi T, Uchida K. Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. J Vet Med Sci. 2007 Oct;69(10):1047-52. [PubMed: 17984592]
  • Nibe K, Nakayama H, Uchida K. Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. Vet Pathol. 2009 May;46(3):474-83. [PubMed: 19176506]
  • Tsuboi M, Watanabe M, Nibe K, Yoshimi N, Kato A, Sakaguchi M, Yamato O, Tanaka M, Kuwamura M, Kushida K, Ishikura T, Harada T, Chambers JK, Sugano S, Uchida K, Nakayama H. Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. PLoS One. 2017 Jan 20;12(1). [PubMed: 28107443]