Polyneuropathy in Golden Retrievers

Polyneuropathy is an inherited neurological disease that affects the peripheral nerves and leads to impaired myelin formation. Clinical signs include weakness, difficulty walking, tremors or loss of reflexes. The disease can occur at a young age and gradually deteriorate the dog's quality of life.

The disease is caused by a missense mutation c.434T>C in the MPZ gene, which encodes one of the myelin proteins.

The inheritance of the mutation is probably autosomal dominant. This means that one copy of the mutated gene inherited from either parent is enough to cause the symptoms of the disease. The genetic test can identify the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of puppies with this disease.

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References:

Cook, S., Hooser, B.N., Williams, D.C., Kortz, G., Aleman, M., Minor, K., Koziol, J., Friedenberg, S.G., Cullen, J.N., Shelton, G.D., Ekenstedt, K.J. :Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy. Neuromuscul Disord 33:677-691, 2023. Pubmed reference: 37400349