Neuronal Ceroid Lipofuscinosis 5 (Golden Retriever Type)

General Information: Neuronal Ceroid Lipofuscinosis 5 (Golden Retriever Type) is a hereditary lysosomal storage disorder that leads to the accumulation of waste compounds in the nervous system due to insufficient enzyme activity. Symptoms in affected dogs usually appear between 12 and 14 months of age, starting with behavioral changes and restlessness. As the disease progresses, dogs may experience coordination problems, balance issues, and difficulty climbing stairs, especially when excited. Further symptoms include severe incoordination, a wide-based stance, tremors, anxiety, agitation, persistent circling or pacing, loss of learned behaviors, “fly-biting” (snapping at air), blindness, aggression, and seizures. Unfortunately, dogs with this condition typically do not live beyond 2 to 3 years and are often humanely euthanized due to the severity of symptoms.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the CLN5 gene is essential for identifying carriers and dogs affected by Neuronal Ceroid Lipofuscinosis 5 (Golden Retriever Type). This condition is inherited in an autosomal recessive manner, meaning that a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, which possess one normal and one mutated gene, generally do not show symptoms but can pass the mutation to their offspring. When breeding, it is crucial to avoid pairing two carriers to prevent the risk of producing affected puppies. Each puppy from such a mating has a 25% chance of developing the disease and a 50% chance of being a carrier. Using genetic testing for the CLN5 mutation allows breeders to make informed decisions, ensuring the health and well-being of future generations. By eliminating carriers from breeding lines, breeders can significantly reduce the incidence of Neuronal Ceroid Lipofuscinosis in Golden Retrievers and other susceptible breeds, promoting healthier and longer-lived dogs.