Alaskan Husky Encephalopathy (AHE)

Quick Summary

Alaskan Husky encephalopathy is an inherited fatal neurological disorder characterized by seizures, trouble walking, a high stepping gait, trouble eating, and visual problems.

Phenotype: Alaskan Husky encephalopathy is an inherited fatal neurological disorder characterized by seizures, trouble walking, a high stepping gait, trouble eating, and visual problems.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal/Unaffected, AHE = Alaskan Husky encephalopathy

Breeds appropriate for testing: Alaskan Husky

Explanation of Results:

  • Dogs with N/N genotype will not have Alaskan Husky encephalopathy and cannot transmit this Alaskan Husky encephalopathy variant to their offspring.
  • Dogs with N/AHE genotype will not have Alaskan Husky encephalopathy, but are carriers. They will transmit this Alaskan Husky encephalopathy variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% Alaskan Husky encephalopathy-affected puppies.
  • Dogs with AHE/AHE genotype will have Alaskan Husky encephalopathy with a variable age of onset of neurological symptoms.

Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)

Price

$50 one test per animal
$30 as additional test (same animal)
Additional $5 discount on 3 or more dogs

Additional Details

Alaskan Husky Encephalopathy (AHE) is a brain disease affecting Alaskan Husky dogs. The disease usually affects juvenile and young adult males and females, and often multiple dogs from the same litter. The disease is eventually fatal, although some dogs may live for months to years before the signs progress. Signs of AHE include seizures, trouble walking, a high stepping gait, trouble eating, and visual problems. AHE is inherited as a simple autosomal recessive trait.

The mutation responsible for AHE, SLC19A3 (c.624 insTTGC, c.625 C>A), results in a shortened form of the protein. The disease potentially can occur in any breed, but is most commonly found in the Alaskan Husky. A DNA test for the specific AHE mutation is now available that can determine if dogs are normal, or if they carry one or two copies of the defective gene. Dogs that carry two copies of the mutation are affected and expected to develop neurological problems.

Testing for AHE is important in assisting clinicians, owners, and breeders in identifying affected and carrier dogs. Breeders can use results form the tests as a tool for selection of mating pairs to avoid producing affected dogs.

Turnaround Time
Allow 3-6 business days for results.

Species

Dog

Type of Test

Results Reported As
Test Result Alaskan Husky Encephalopathy (AHE)
N/N No copies of the AHE mutation. Dog is normal.
N/AHE 1 copy of AHE mutation. Dog is normal but is a carrier.
AHE/AHE 2 copies of AHE mutation. Dog is affected. Age of onset of neurological problems is variable.
References

Wakshlag, J. J., de Lahunta, A., Robinson, T., Cooper, B. J., Brenner, O., O'Toole, T. D., Olson, J., Beckman, K. B., Glass, E., & Reynolds, A. J. (1999). Subacute necrotising encephalopathy in an Alaskan husky. Journal of Small Animal Practice, 40(12), 585-589.

Brenner, O., Wakshlag, J. J., Summers, B. A., & de Lahunta, A. (2000). Alaskan Husky encephalopathy--a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome). Acta Neuropathologica, 100(1), 50-62. doi: 10.1007/s004010051192

Vernau, K. M., Runstadler, J. A., Brown, E. A., Cameron, J. M., Huson, H. J., Higgins, R. J., Ackerley, C., Sturges, B. K., Dickinson, P. J., Puschner, B., Giulivi, C., Shelton, G. D., Robinson, B. H., DiMauro, S., Bollen, A. W., & Bannasch, D. L. (2013). Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy. Plos One, 8(3), e57195. doi: 10.1371/journal.pone.0057195