A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration

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• 作者：T. Mhlanga-Mutangadura ; G.S. Johnson ; A. Ashwini ; G.D. Shelton ; S.A. Wennogle ; G.C. Johnson ; K. Kuroki and D.P. O' ; Brien
• 刊名：Journal of Veterinary Internal Medicine
• 出版年：2016
• 出版时间：May/June 2016
• 年：2016
• 卷：30
• 期：3
• 页码：813-818
• 全文大小：952K
• ISSN：1939-1676

文摘

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 (BRTs). Dogs with POANV harbor mutations in RAB3GAP1 which codes for a protein involved in membrane trafficking.