Neuronal ceroid lipofuscinosis is a lysosome storage disorder with an autosomal recessive inheritance. It is characterized by intraneuronal accumulation of autofluorescent lipopigments, early neuronal death in the central nervous system, progressive deterioration of cognitive and motor function, epileptic seizures, visual impairment, anxiety and abnormal behaviour. The progressive clinical signs occur early in dog’s life and eventually lead to premature death, therefore the affected dogs are usually euthanised.

Inheritance: autosomal recessive - read more

Mutation: CLN6 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.