Neuronal Ceroid Lipofuscinosis (Tibetan Terrier Type)

General Information: Neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage disorders in dogs, where a deficiency in a specific enzyme leads to abnormal accumulation of waste compounds in nervous system cells, causing progressive neurological symptoms. Dogs affected by NCL (Tibetan Terrier type) typically begin showing signs of vision loss and behavioral changes between 4 to 7 years old, including muscle coordination problems, abnormal gait, and difficulties with balance and jumping. As the disease advances, symptoms worsen, with episodes of confusion, depression, aggression, seizures, and increased vocalization. Eventually, dogs may experience sensory decline and complete vision loss, alongside behavioral signs resembling dementia such as loss of learned behaviors, irritability, and aggression. Currently, there is no known treatment for this disease.

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 ATP13A2 gene can identify carriers of NCL (Tibetan Terrier type), an autosomal recessive disorder in dogs. Carrier dogs do not show symptoms but can pass the mutation to offspring if bred with another carrier, resulting in a 25% chance of disease inheritance and a 50% chance of offspring being carriers. It is crucial to perform reliable genetic testing before breeding to prevent producing affected puppies. Breeding known carriers together is not advised to eliminate the mutation from breeding lines and avoid the risk of affected pups, while dogs without the mutation pose no increased risk of offspring being affected.