Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation (POANV)

Quick Summary

Polyneuropathy with ocular abnormalities and neuronal vacuolation is a progressive, fatal neurological disorder seen in Black Russian Terriers and Rottweilers.

Phenotype: Affected dogs may show laryngeal paralysis, eye problems, limb weakness, and motor deficits. The disease has an early onset (around 3 months of age) and affected animals either die or are euthanized for steadily decreasing quality of life by 1 year of age.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal, P = Polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV)

Breeds appropriate for testing: Black Russian Terrier, Rottweiler

Explanation of Results:

  • Dogs with N/N genotype will not have polyneuropathy with ocular abnormalities and neuronal vacuolation and cannot transmit this POANV variant to their offspring.
  • Dogs with N/P genotype will not have polyneuropathy with ocular abnormalities and neuronal vacuolation, but are carriers. They will transmit this POANV variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% POANV-affected puppies.
  • Dogs with P/P genotype will have polyneuropathy with ocular abnormalities and neuronal vacuolation, a fatal condition.

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)
$45 for 3 or more dogs

Panels Available
Additional Details

Polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV) is a hereditary neurologic defect that occurs in Black Russian Terriers and Rottweilers. This disorder has been previously described as juvenile-onset, laryngeal paralysis and polyneuropathy (JLPP) in Black Russian Terriers and neuronal vacuolation and spinocerebellar degeneration (NVSD) in Rottweilers. Signs of disease common to both breeds are early onset (around 3 months of age) of laryngeal paralysis (failure of the voice box to function), microphthalmia (small eyes), congenital cataracts (clouding of the lens of the eye) and axonal peripheral neuropathy (damage of peripheral nerves in muscle, skin) that presents as pelvic limb weakness and motor deficits. The disease is progressive and affected animals either die or are euthanized for steadily decreasing quality of life by 1 year of age.

POANV results from a nucleotide deletion in the RAB3GAP1 gene (c.743delC), reported here as P. The disease is inherited in an autosomal recessive fashion, which means that males and females are equally affected and that two copies of the defective gene are needed to cause POANV. Dogs with one normal and one affected gene (carriers) are normal and show no sign of the disease.

Testing for POANV assists clinicians with diagnosis of POANV and helps breeders to identify carriers to avoid breeding these together. Mating of carriers is expected to produce 25% of affected puppies

Turnaround Time
3-6 business days

Species

Dog

Type of Test

Results Reported As
Test Result Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation

N/N

Normal. No copies of the POANV/JLPP mutation.

N/P

Carrier. 1 copy of the POANV/JLPP mutation. Dog is normal.

P/P

Affected. 2 copies of the POANV/JLPP mutation. Dog will develop polyneuropathy.

References

Mhlanga-Mutangadura, T., Johnson, G.S., Schnabel, R.D., Taylor, J.F., Johnson, G.C., Katz, M.L., Shelton, G.D., Lever, T.E., Giuliano, E., Granger, N., Shomper, J., & O'Brien, D.P. (2016). A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiology of Disease, 86, 75-85. doi: 10.1016/j.nbd.2015.11.016

Mhlanga-Mutangadura, T., Johnson, G.S., Ashwini, A., Shelton, G.D., Wennogle, S.A., Johnson, G.C., Kuroki, K., & O'Brien, D.P. (2016). A Homozygous RAB3GAP1;c.743delC mutation in Rottweilers with neuronal vacuolation and spinocerebellar degeneration. Journal of Veterinary Internal Medicine, 30(3), 813-818. doi: 10.1111/jvim.13921