198: Hereditary Ceroid Lipofuscinosis in Tibetan Terriers

Grant Status: Closed

Grant Amount: $74,520
Martin L. Katz, PhD; University of Missouri, Columbia
October 1, 2004 - September 30, 2006


Breed(s): Tibetan Terrier
Research Program Area: Neurology
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Ceroid-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.


Awano, T., Katz, M. L., O’Brien, D. P., Sohar, I., Lobel, P., Coates, J. R., … Johnson, G. S. (2006). A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Molecular Genetics and Metabolism, 89(3), 254–260. https://doi.org/10.1016/j.ymgme.2006.02.016
Awano, T., Katz, M. L., O’Brien, D. P., Taylor, J. F., Evans, J., Khan, S., … Johnson, G. S. (2006). A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Molecular Genetics and Metabolism, 87(4), 341–348. https://doi.org/10.1016/j.ymgme.2005.11.005
Katz, M. L., Sanders, D. N., Mooney, B. P., & Johnson, G. S. (2007). Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan Terriers with hereditary neuronal ceroid lipofuscinosis. Journal of Inherited Metabolic Disease, 30(6), 952–963. https://doi.org/10.1007/s10545-007-0683-y
Katz, Martin L., Narfstrom, K., Johnson, G. S., & O’Brien, D. P. (2005). Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis. American Journal of Veterinary Research, 66(1), 67–76. https://doi.org/10.2460/ajvr.2005.66.67

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