Neuroaxonal Dystrophy (Rottweiler Type)
Affected Genes: VPS11
Inheritance: Autosomal Recessive
Variant(canFam6):
chr5:14830764: T>C
Breed: Rottweiler
General Information: Neuroaxonal Dystrophy (NAD) in Rottweilers is a progressive neurological disease characterized by nerve degeneration, leading to a variety of debilitating symptoms. Affected dogs typically present with signs before the age of five, most commonly by two years of age. Symptoms include uncoordinated movement (ataxia), overstepping or high-stepping (hypermetria), abnormal gait, head tremors, loss of balance, and nystagmus, which is the rapid, involuntary movement of the eyes. Despite having normal vision, these dogs often have a reduced response to objects approaching their eyes quickly, known as a decreased menace response. The disease progresses slowly, and while some dogs may live into late adulthood, their quality of life deteriorates as symptoms become increasingly severe, affecting their ability to move and coordinate effectively.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the VPS11 gene is crucial for identifying carriers of the Neuroaxonal Dystrophy (NAD) mutation in Rottweilers. This disorder is inherited in an autosomal recessive manner, requiring a dog to inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, with only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected by NAD and a 50% chance of being a carrier. Accurate genetic testing is vital for responsible breeding to avoid mating two carriers, thereby reducing the risk of producing puppies with this debilitating neurological condition. By ensuring that only non-carrier dogs are bred, breeders can help eliminate NAD from Rottweiler lines, promoting healthier future generations.
References:
Chrisman CL, Cork LC, Gamble DA. Neuroaxonal dystrophy of Rottweiler dogs. J Am Vet Med Assoc. 1984 184(4):464-467.
Lucot KL, Dickinson PJ, Finno CJ, Mansour TA, Letko A, Minor KM, Mickelson JR, Drogemuller C, Brown CT, Bannasch DL. A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. G3 (Bethesda). 2018 8(8):2773-2780.