Neuronal Ceroid Lipofuscinosis 8 (Australian Shepherd Type)

General Information: Neuronal Ceroid Lipofuscinosis 8 (NCL8, Australian Shepherd Type) is an inherited lysosomal storage disease that affects dogs, leading to the accumulation of waste compounds in nervous system cells due to a lack of a crucial enzyme. Symptoms typically begin to appear between 8 and 12 months of age, with behavioral changes such as increased sensitivity to sounds and a loss of previously learned behaviors like housetraining and responsiveness to commands. As the disease progresses, affected dogs exhibit signs of severe neurological decline, including mental dullness, weakness, compulsive movements, anxiety, aggression, loss of balance, blindness, and seizures. Unfortunately, affected dogs often die or are euthanized by the age of 2 years due to the rapid progression of symptoms and the severe impact on their quality of life.

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 CLN8 gene is essential for identifying carriers and dogs affected by Neuronal Ceroid Lipofuscinosis 8 (Australian Shepherd Type). This disorder 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 condition. Carrier dogs, which have one normal and one mutated gene, typically do not exhibit symptoms but can pass the mutation to their offspring. When breeding, it is crucial to avoid mating two carriers to prevent the risk of producing affected puppies. Each puppy from such a pairing has a 25% chance of inheriting the disease and a 50% chance of being a carrier. Reliable genetic testing for the CLN8 mutation enables breeders to make informed decisions, avoiding the production of affected puppies and eliminating the mutation from breeding lines. This practice is vital for maintaining the health and well-being of future generations, reducing the incidence of NCL8 in Australian Shepherds and other breeds, and ensuring the production of healthy, long-lived dogs.