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.

Rottweiler. Estimated allele frequency around 2.3% (Lucot 2018); limited data outside the breed.

- Postural deficits and ataxia with onset in the young adult\n- Hypermetria and intention tremor\n- Nystagmus and absent menace response\n- Head bobbing and head tremor in animals aged 3 to 5 years\n- Mild cerebellar atrophy, axonal spheroids and demyelination\n- Mild progression

Neuroaxonal dystrophy in the Rottweiler was described clinically in the 1980s. Lucot and colleagues (2018) identified, using GWAS and sequencing, the missense variant in VPS11 associated with the disease.

- 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

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.

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.