More than 400 dogs were tested quickly when the news came out. Topbrass Golden Retriever breeder Jackie Mertens, of Palm Bay, Florida, the breeder of Lexi’s sire, “Laddie” (Topbrass Lad Of The Lakes MH WCX), helped get the word out to the field community. He reached out to the owners of puppies he bred that were potentially affected. It was imperative to Ron Rubrecht to raise awareness about NCL and the genetic test developed at the University of Missouri. As predicted by the odds, Lexi’s littermate sister, “Gracie,” also had NCL. This autosomal recessive condition occurs when the sire and dam are carriers and produce a litter in which an average of 25 percent of puppies are affected. Golden Retrievers typically show signs around 1 to 2 years of age.įortunately, DNA testing is available that allows Golden Retriever breeders to determine their dog’s genetic status and avoid producing puppies destined to develop NCL. Affected dogs develop normally until the storage material builds up and interferes with functioning. This results in the accumulation of ceroid lipofuscin - an unusual material that glows fluorescent yellow when examined under a microscope - in the brain, retina and other tissues. The cause of Lexi’s restlessness, anxiety, pacing, declining motor skills, bumping into things at home, and snapping at flies that weren’t there was due to this lysosomal storage disease.Įssentially a failure of the lysosome system that recycles amino acids, or proteins, in cells, NCL occurs in Golden Retrievers due to a mutation in the CLN5 gene.
It was heartbreaking to Turbo Golden Retriever breeders Ron and Pat Rubrecht of Land O’Lakes, Florida, to learn that a dog from a litter they bred had NCL - a disease they had never heard about - and one they sold to a field-trial home. When a 1 ½ -year-old field-bred female Golden Retriever named “Lexi” (Turbo’s Timeless Treasure) was confirmed to have the rare recessive degenerative neurological disease, neuronal ceroid lipofuscinosis (NCL), in the fall of 2018, it began a scurry of submissions of DNA from Golden Retrievers throughout the country for genetic testing.
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