198: Hereditary Ceroid Lipofuscinosis in Tibetan Terriers
Grant Status: Closed
AbstractCeroid-Lipofuscinosis (CL) is an inherited disorder that occurs in a number of dog breeds. This disease is particularly prevalent in Tibetan Terriers. In CL the retina and brain slowly degenerate, resulting in symptoms that include increased nervousness, loss of coordination, loss of training, decreased ability to see in dim light, bumping in to objects or barriers, seizures, increased aggressiveness, and difficulty going up or down stairs. The symptoms eventually become so severe that most affected dogs are euthanized in the later stages of the disease. Dogs only develop CL if they inherit two defective copies of the gene involved in this disease. Carriers, with only one defective copy, show no symptoms, but can pass the defective gene on to their offspring. Because of our inability to identify carriers, and because symptoms do not appear until 4-5 years of age, it will be almost impossible to eradicate CL from Tibetan Terriers by selective breeding until we can screen each dog for the presence of the gene defect. The goal of the proposed research is to identify the gene defect responsible for CL in Tibetan Terriers, and to develop a test to identify the presence of this gene defect in puppies.
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