407: The Genetics of Canine Cerebellar Degeneration

Grant Status: Closed

Grant Amount: $82,837.8
Natasha J Olby, VetMB PhD; North Carolina State University
January 1, 2005 - December 31, 2007

Sponsor(s):

Breed(s): American Staffordshire Terrier, Old English Sheepdog, Gordon Setter, Scottish Terrier
Research Program Area: Neurology
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Abstract

Adult onset cerebellar cortical degeneration has been recognized in American Staffordshire Terriers, Gordon Setters, Scottish Terriers and Old English Sheepdogs. Although each breed of dog may have a distinct disease, all have striking similarities in pathological changes and clinical course. We therefore propose that they belong to the same group of neurodegenerative disorders, also known as the hereditary or spinocerebellar ataxias. Due to the late onset and recessive nature of these diseases, the genes have become widely dispersed in the breeds of dog concerned. It is vital that the genetic nature of these inherited diseases is elucidated in order to develop tests that can identify both affected and carrier status. DNA and RNA have been, and will continue to be, banked from families of affected dogs in each breed. The aim of this project is to use linkage analysis to identify genetic markers of this disease. The number of samples banked varies among breeds, and we will start by investigating the breed with the most complete DNA bank. As an additional approach, levels of gene expression in cerebellar tissue will be compared between normal and affected dogs using microarrays.

Publication(s)

Agler, C., Nielsen, D. M., Urkasemsin, G., Singleton, A., Tonomura, N., Sigurdsson, S., … Olby, N. J. (2014). Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24. PLoS Genetics, 10(2), e1003991. https://doi.org/10.1371/journal.pgen.1003991

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