Article
A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs.
Neurobiology of disease - 1 Feb 2016
Mhlanga-Mutangadura Tendai, Johnson Gary S, Schnabel Robert D, Taylor Jeremy F, Johnson Gayle C, Katz Martin L, Shelton G Diane, Lever Teresa E, Giuliano Elizabeth, Granger Nicolas, Shomper Jeremy, O'Brien Dennis P
Abstract excerpt
An autosomal recessive disease of Black Russian Terriers was previously described as a juvenile-onset, laryngeal paralysis and polyneuropathy similar to Charcot Marie Tooth disease in humans. We found that in addition to an axonal neuropathy, affected dogs exhibit microphthalmia, cataracts, and miotic pupils. On histopathology, affected dogs exhibit a spongiform encephalopathy characterized by accumulations of...
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