Neuronal Ceroid Lipofuscinosis 4A

General Information: Neuronal Ceroid Lipofuscinosis 4A (NCL4A) is an inherited lysosomal storage disease caused by a deficiency in the enzyme arylsulfatase G (ARSG), necessary for breaking down certain proteins in cells. This deficiency leads to the accumulation of these proteins, impairing the normal function of the brain and nervous system. Affected dogs typically present between 3 to 5 years of age with slowly progressive neurological symptoms, including lack of muscle coordination, tremors, abnormal eye movements, abnormal gait, and difficulty balancing and jumping. As the disease progresses, dogs often lose their ability to walk and are euthanized 2 to 4 years after initial symptoms. In rare cases, affected dogs may live a normal lifespan with mild 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 of the ARSG gene can determine whether a dog is a carrier of Neuronal Ceroid Lipofuscinosis 4A (NCL4A). This disease follows an autosomal recessive inheritance pattern, meaning that a dog must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carrier dogs do not show disease symptoms, but breeding two carriers together can result in affected pups. Each pup from such a pairing has a 25% chance of inheriting the disease and a 50% chance of being a carrier of the ARSG gene mutation. Reliable genetic testing is crucial for informed breeding practices. To prevent the production of affected pups and eliminate this mutation from breeding lines, it is recommended to avoid breeding two carriers together. Dogs that are not carriers do not have an increased risk of having affected offspring.