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Background  A variety of presumed hereditary, neurologic diseases have been reported in young Rottweilers. Overlapping ages of onset and clinical signs have made antemortem diagnosis difficult. One of these diseases, neuronal vacuolation and spinocerebellar degeneration ( NVSD ) shares clinical and histological features with polyneuropathy with ocular abnormalities and neuronal vacuolation ( POANV ), a recently described hereditary disease in Black Russian Terriers ( BRT s). Dogs with  POANV  harbor mutations in   RAB 3 GAP 1  which codes for a protein involved in membrane trafficking.    Hypothesis  Rottweilers with  NVSD  will be homozygous for the   RAB 3 GAP 1:c.743delC  allele associated with  POANV  in  BRT s.    Animals  Eight Rottweilers with  NVSD  confirmed at necropsy, 128 Rottweilers without early onset neurologic signs, and 468 randomly selected dogs from 169 other breeds.    Methods  Retrospective case–control study. Dogs were genotyped for the   RAB 3 GAP 1:c.743delC  allele with an allelic discrimination assay.    Results  All 8  NVSD ‐affected dogs were homozygous for the   RAB 3 GAP 1:c.743delC  allele while the 128  NVSD ‐free Rottweilers were either homozygous for the reference allele (n = 105) or heterozygous (n = 23) and the 468 genotyped dogs from other breeds were all homozygous for the reference allele.    Conclusions and Clinical Importance  The   RAB 3 GAP 1:c.743delC  mutation is associated with a similar phenotype in Rottweilers and  BRT s. Identification of the mutation permits a  DNA  test that can aid in the diagnosis of  NVSD  and identify carriers of the trait so that breeders can avoid producing affected dogs. Disruption of membrane trafficking could explain the neuronal vacuolation seen in  NVSD  and other spongiform encephalopathies.

A Homozygous RAB 3 GAP 1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration