Disease overview

Neuroaxonal dystrophy is a degenerative neurological disease. It results from a mutation in the VPS11 gene, which affects how information gets relayed across distances on the nerves. This disease causes delays in information transfer between the brain and the body.

Gene name

VPS11

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will present with clinical signs when they are young adults. These may include uncoordinated movement (ataxia), tremors, weak muscles, loss of limb control, and/or involuntary eye movement (nystagmus).

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests and imaging may be required for definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Lucot KL, Dickinson PJ, Finno CJ, Mansour TA, Letko A, Minor KM, Mickelson JR, Drögemüller 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 Jul 31;8(8):2773-2780. doi: 10.1534/g3.118.200376. PMID: 29945969; PMCID: PMC6071611.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.