Neuronal Ceroid Lipofuscinosis 1

General Information: Neuronal Ceroid Lipofuscinosis 1 (NCL1) is a fatal genetic disorder in dogs characterized by the accumulation of lipofuscin in body tissues due to a deficiency of the enzyme palmitoyl protein thioesterase (PPT1). This accumulation primarily affects neurological function, leading to severe symptoms. Dogs with NCL1 typically begin to show signs of the disease between 6 to 9 months of age. Early symptoms include tremors, uncoordinated movements, and progressive neurological decline. As the disease advances, affected dogs exhibit more profound neurological symptoms such as dementia-like behavior, confusion, loss of sight, seizures, and changes in behavior including aggression and depression. The progression of NCL1 is rapid, with most dogs needing to be euthanized for humane reasons well before reaching two years of age due to the severe decline in 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 Neuronal Ceroid Lipofuscinosis 1 (NCL1) is conducted through analysis of the PPT1 gene to identify carriers or those affected by the disease. NCL1 is transmitted as an autosomal recessive trait, meaning an affected dog must inherit two copies of the defective gene, one from each parent, to exhibit symptoms of the disease. Carriers, having only one copy of the mutation, do not show any symptoms but can pass the defective gene to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected. To prevent the propagation of this debilitating condition, it is crucial not to breed two carriers of the mutation. Regular genetic screening is essential to identify carriers and manage breeding decisions effectively, thereby helping to reduce the incidence of this disease in the dog population. Non-carriers and those bred from at least one non-carrier parent are not at risk of producing affected offspring, emphasizing the importance of widespread genetic testing to maintain healthy breeding practices.