Neuronal ceroid lipofuscinosis (Schapendoes)

General Information: Neuronal Ceroid Lipofuscinosis (NCL) in Schapendoes is a genetic disorder caused by mutations in the CLN6 gene. This condition is characterized by progressive deterioration of cognitive and motor functions, epileptic seizures, visual impairment, and muscle coordination loss. Affected dogs may exhibit symptoms such as ataxia, myoclonus, and developmental regression. The disorder follows an autosomal recessive pattern of inheritance, meaning both parents must carry the mutated gene for their offspring to be affected.

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

Two Variants Detected: Dog Possibly Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Neuronal Ceroid Lipofuscinosis in Schapendoes targets mutations in the CLN6 gene. This condition follows an autosomal recessive pattern of inheritance, meaning both parents must be carriers of the mutated gene for offspring to exhibit symptoms. Dogs carrying one copy of the gene do not show symptoms but have a 50% chance of passing the mutation to their offspring when bred with another carrier, leading to 25% of the puppies potentially being affected. To prevent the transmission of this debilitating condition, it is critical to test breeding dogs for the CLN6 mutation. Carriers should not be bred together to avoid producing affected offspring. Utilizing genetic testing can effectively help eliminate this mutation from the breed, ensuring future generations do not suffer from this painful condition. Non-carriers do not possess the mutation and thus cannot pass the condition onto their offspring.