Neuronal ceroid lipofuscinoses (NCLs) are a group of heritable diseases characterized by progressive neuronal degeneration and accumulation of autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. Clinical symptoms and progress of the disease include increased rates of irritability, with the possibility of outbursts of aggression, hallucinations, hyperactivity and seizures. Most animals lose their ability to coordinate everyday muscle activities. With the increased neurodegeneration affected dogs also develop psychological abnormalities and ataxia.
Inheritance: autosomal recessive - read more
Mutation: PPT1 gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.