2036: Hereditary Ceroid Lipofuscinosis in Dogs

Grant Status: Closed

Grant Amount: $69,500
Dr. Martin L. Katz, PhD, University of Missouri, Columbia
August 24, 2000 - September 30, 2002
Sponsor(s): Tibetan Terrier Club of America/Tibetan Terrier Health & Welfare Foundation
Breed(s): Tibetan Terrier
Research Program Area: Prevention

Abstract

A late-onset disease that occurs in Tibetan Terriers and Border Collies is characterized by vision loss, behavioral changes, loss of coordination, and degeneration of the brain. This disease is called canine ceroid-lipofuscinosis or CCL. In this disorder there is a massive accumulation of abnormal material within cells of the brain, the eye, and other tissues as well. In Tibetan Terriers, CCL appears to result from a genetic defect that is passed from the parents to the offspring. Because the symptoms of the disease do not become grossly apparent until the dogs are older, affected dogs have often been bred several times before the disorder is diagnosed. In addition, the disease is recessive, which means that dogs can carry the disease and pass it on to their offspring even if they do not themselves ever develop the disorder. We propose studies to: 1) to establish a standardized method for identifying CCL in Tibetan Terriers and Border Collies, with a goal of being able to identify the disease as early as possible; 2) to search for the gene defect that causes this disease; and 3) to evaluate the effectiveness of dietary supplementation with carnitine in the treatment of CCL. These studies will lead to early detection of CCL in Tibetan Terriers and Border Collies that will enable affected dogs to be identified before they are bred and thus will reduce the incidence of CCL in these breeds. The studies may also identify a treatment that would ameliorate the disease in affected dogs.

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