Disease overview

Neuroaxonal dystrophy is a degenerative neurological disease that affects how information gets relayed across distances on the nerves. This disease causes delays in information transfer between the brain and the body and is characterized by severe swelling throughout the nervous system.

Gene name

PLA2G6

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will present with clinical signs when they are puppies. 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

Tsuboi M, Watanabe M, Nibe K, Yoshimi N, Kato A, Sakaguchi M, Yamato O, Tanaka M, Kuwamura M, Kushida K, Ishikura T, Harada T, Chambers JK, Sugano S, Uchida K, Nakayama H. Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. PLoS One. 2017 Jan 20;12(1):e0169002. doi: 10.1371/journal.pone.0169002. PMID: 28107443; PMCID: PMC5249094.

Raj K, Giger U. Initial survey of PLA2G6 missense variant causing neuroaxonal dystrophy in Papillon dogs in North America and Europe. Canine Med Genet. 2020 Nov 30;7(1):17. doi: 10.1186/s40575-020-00098-4. PMID: 33292730; PMCID: PMC7706237.

Disclaimer

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