Peer-reviewed veterinary case report
Neuroaxonal dystrophy linked to VPS11 gene mutation in Rottweilers
By Lucot, Katherine L et al.·Published in G3 (Bethesda, Md.)·2018·School of Veterinary Medicine, United States·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: A Missense Mutation in the Vacuolar Protein Sorting 11 () Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs.
- Species:
- dog
Plain-English summary
A 3-year-old Rottweiler was diagnosed with neuroaxonal dystrophy (NAD), a serious neurological condition that affects young adult dogs. This disease leads to degeneration of nerve cells, causing symptoms like weakness and coordination problems. Researchers found a specific genetic mutation in the Vacuolar Protein Sorting 11 gene that is linked to this condition in Rottweilers. With this discovery, veterinarians can now offer a genetic test to confirm NAD in affected dogs, potentially helping owners understand their pet's health better. Unfortunately, there is currently no cure for NAD, and management focuses on supportive care.
People also search for: Rottweiler neurological disease · dog weakness and coordination problems · neuroaxonal dystrophy test for dogs
Abstract
Canine neuroaxonal dystrophy (NAD) is a recessive, degenerative neurological disease of young adult Rottweiler dogs () characterized pathologically by axonal spheroids primarily targeting sensory axon terminals. A genome-wide association study of seven Rottweilers affected with NAD and 42 controls revealed a significantly associated region on canine chromosome 5 (CFA 5). Homozygosity within the associated region narrowed the critical interval to a 4.46 Mb haplotype (CFA5:11.28 Mb - 15.75 Mb; CanFam3.1) that associated with the phenotype. Whole-genome sequencing of two histopathologically confirmed canine NAD cases and 98 dogs unaffected with NAD revealed a homozygous missense mutation within the Vacuolar Protein Sorting 11 () gene (g.14777774T > C; p.H835R) that was associated with the phenotype. These findings present the opportunity for an antemortem test for confirming NAD in Rottweilers where the allele frequency was estimated at 2.3%.mutations have been associated with a degenerative leukoencephalopathy in humans, andshould additionally be included as a candidate gene for unexplained cases of human NAD.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/29945969/