Test Detail
Neuroaxonal dystrophy (NAD) in the Rottweiler
Neurological · Dog
A recessive neurodegenerative disease of the Rottweiler with onset in the young adult, with axonal spheroids mainly affecting sensory terminals of the central nervous system. It is associated with a missense mutation in the VPS11 gene. A test complementary to, not a substitute for, clinical examination.
Incidence
Rottweiler. Estimated allele frequency around 2.3% (Lucot 2018); limited data outside the breed.
Breeder management
- Genotype breeding animals before mating\n- Avoid carrier x carrier mating (25% affected)\n- A carrier may be mated to a clear animal: produces no affected offspring\n- Do not breed affected homozygotes
Specialist notes
Confirm the diagnosis with an antemortem genetic test. Include VPS11 in the differential diagnosis of unexplained neuroaxonal dystrophy cases and as a model for human VPS11 leukoencephalopathy.
References
1. Lucot KL et al. 2018, A missense mutation in the vacuolar protein sorting 11 (VPS11) gene is associated with neuroaxonal dystrophy in Rottweiler dogs. G3 (Bethesda). PMID: 29945969. OMIA:002152-9615.