Neuronal ceroid lipofuscinosis is a lysosomal storage disease, characterized by neurodegeneration and decline in neurological functions at approximately 6 years of age due to accumulation of autofluorescent lysosomal storage bodies in cells of the central nervous system, as well as many other tissues. The clinical signs also include anxiety, impaired ability to recognize and respond to previously learned commands, increased sensitivity to loud or unexpected sounds, sleep disturbances, inappropriate or persistent vocalization, impaired ability to navigate stairs and to jump up or down from furniture, trembling, seizures, stiffness or weakness, loss of coordination, and ability to see in both bright and dim light. The affected dogs usually have to be euthanized due to progression of the disease.

Inheritance: autosomal recessive - read more

Mutation: ATP13A2 gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.