00765-A: Mapping the Mutation Responsible for Neuronal Ceroid Lipofuscinosis in Tibetan Terriers

Grant Status: Closed

Grant Amount: $12,960
Martin L. Katz, PhD; University of Missouri, Columbia
May 1, 2006 - April 30, 2007


Breed(s): Tibetan Terrier
Research Program Area: Neurology
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The neuronal ceroid lipofuscinoses (NCLs) are inherited progressive diseases of the nervous system that are characterized by a spectrum of neurological symptoms that include movement problems, visual impairment, seizures, loss of training, personality changes, and premature death. We have characterized a late-onset form of NCL in Tibetan Terriers and determined that this disease is inherited as an autosomal recessive trait. This means that dogs can be carriers without showing any sign of disease and can pass on the disease to their offspring. Recently the lab of Dr. Kerstin Lindblad-Toh has developed a tool that will allow us to determine the chromosomal location of the Tibetan Terrier NCL gene using samples from dogs that we have already collected. This new tool has already been used to successfully map the genes involved in two other canine diseases. With this new tool, we should be able to narrow down the location of the Tibetan Terrier NCL gene to a very small part of the dog genome. This work will eventually lead to the development of a DNA test that will enable us to identify carrier and affected dogs shortly after birth.


Farias, F. H. G., Zeng, R., Johnson, G. S., Wininger, F. A., Taylor, J. F., Schnabel, R. D., … Katz, M. L. (2011). A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan Terriers. Neurobiology of Disease, 42(3), 468–474. https://doi.org/10.1016/j.nbd.2011.02.009

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