Disease overview

Polyneuropathy with ocular abnormalities and neuronal vacuolation is an inherited neurological disease characterized by degeneration of the nerves in the body, which leads to muscle loss. This disease primarily affects the muscles in the hind limbs and larynx, and causes changes to the brain and the muscles in the eyes.

Gene name

RAB3GAP1

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs of this disease include muscle atrophy, exercise intolerance, weakness, loud respiration, and/or difficulty breathing. Ocular abnormalities include cataracts, which present as cloudy eyes with abnormally constricted pupils. Signs can develop as early as one year of age.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests, including imaging, may be required for a definitive diagnosis. Genetic testing is necessary to determine an underlying genetic cause.

Breeds at higher risk

, ,

Citations

Mhlanga-Mutangadura T, Johnson GS, Schnabel RD, Taylor JF, Johnson GC, Katz ML, Shelton GD, Lever TE, Giuliano E, Granger N, Shomper J, O'Brien DP. A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiol Dis. 2016 Feb;86:75-85. doi: 10.1016/j.nbd.2015.11.016. Epub 2015 Nov 25. PMID: 26607784.

Wiedmer M, Oevermann A, Borer-Germann SE, Gorgas D, Shelton GD, Drögemüller M, Jagannathan V, Henke D, Leeb T. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). G3 (Bethesda). 2015 Nov 23;6(2):255-62. doi: 10.1534/g3.115.022707. PMID: 26596647; PMCID: PMC4751546.

Disclaimer

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