Neuronal ceroid lipofuscinosis is an autosomal recessive disorder, characterized by brain and retinal atrophy and the accumulation of auto-fluorescent storage material in neurons and many other cells within the dog’s body. The symptoms of affected dogs occur at young age at around 8 months and include neurodegeneration resulting in difficulty in navigating in low light, visual impairment progressing to blindness, ataxia, lethargy and premature death. The affected dogs usually have to be euthanized due to deterioration of the neurological functions and overall clinical worsening.

Inheritance: autosomal recessive - read more

Mutation: PPT1 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.