01865-A: Defining the Genes That Cause Fatal Degeneration of the Nervous System

Grant Status: Closed

Grant Amount: $12,960
Dr. Dennis P. O'Brien, DVM PhD, University of Missouri, Columbia
October 1, 2012 - March 31, 2014
Sponsor(s): Border Terrier Club of America
Breed(s): Border Terrier
Research Program Area: Neurology

Abstract

The objective of this proposal is to identify the cause of a newly recognized neurodegenerative disease in Border Terrier puppies and develop a DNA test to permit breeders to eliminate the disease from the breed. Affected pups are born normally, but as they begin to walk, a dramatic tremor of the back legs appears causing a characteristic "rump shaking". This tremor becomes progressively worse affecting the entire body and most of the affected pups have been euthanized. On post-mortem examination, extensive degeneration of the brain and spinal cord (leukoencephalomyelpathy) was identified. The dogs in the original report were from the United States and Norway, but Dr. O'Brien has subsequently identified additional affected dogs from England and Canada, suggesting that the condition may be widespread in the breed. The disease appears to be inherited as a recessive trait with parents of affected animals being clinically normal. Currently there is no means of identifying carriers of the trait. In collaboration with the authors of the original report of the disease, Dr. O'Brien has collected DNA samples from 6 Border Terriers confirmed with the disease and 7 normal family members. State-of-the-art genetic evaluations currently performed in our laboratory permit the identification of causative mutations in heritable diseases. They predict that the mutation responsible for this disease can be determined from these samples and current technology.

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