Neuronal ceroid lipofuscinosis (NCL7) is an autosomal recessive hereditary disorder described in Chinese Crested Dogs and Chihuahuas. It is a lysosomal storage disease and is characterized by progressive neurological impairment. The symptoms start to show in young dogs and include progressive cognitive decline, motor impairment, vision loss, seizures and progressive brain atrophy together with the accumulation of autofluorescent lysosomal storage bodies in the brain, retina and other tissues. The affected dogs usually have to be euthanised at around 20 months of age due to progressive neurological decline.

Inheritance: autosomal recessive - read more

Mutation: MFSD8 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.