Phenotype: Signs of neuroaxonal dystrophy are first apparent in young adults as uncoordinated movement (ataxia) and overstepping/high-stepping an intended location (hypermetria). Additional signs may include tremors and involuntary eye movements (nystagmus).
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, NADR = Neuroaxonal dystrophy
Breeds appropriate for testing: Rottweiler
Explanation of Results:
Dogs with N/N genotype will not have this neuroaxonal dystrophy and cannot transmit this NAD variant to their offspring.
Dogs with NADR/N genotype will not be affected by this neuroaxonal dystrophy, but are carriers. They will transmit this NAD variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% neuroaxonal dystrophy-affected puppies.
Dogs with NADR/NADR genotype will have neuroaxonal dystrophy, a degenerative neurological disease.
At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested.
Neuroaxonal dystrophy (NAD) in Rottweiler dogs is a degenerative neurological disease. Signs are first apparent in young adults as uncoordinated movement (ataxia) and overstepping/high-stepping an intended location (hypermetria). Additional signs may include tremors and involuntary eye movements (nystagmus).
NAD in Rottweilers results from a mutation in VPS11 (c.2504A>G), reported here as NADR. 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 NAD. Dogs with one normal and one affected gene (carriers) are normal and show no signs of the disease.
Testing for NAD in Rottweiler dogs assists clinicians with diagnosis of NAD and help breeders identify carriers among breeding stock to avoid producing affected dogs. Matings between carriers are expected to produce 25% of affected puppies.
Note: This test does not identify the causative NAD variants in other breeds. It is specific for the VPS11 variant causing NAD in the Rottweiler breed.