Lysosomal storage disease (LSD) is an inherited autosomal recessive lysosomal storage disease. Defects in the cell’s degradation process cause various cellular materials to accumulate within the cells. This waste material affects nerve cell function, causing a progressive neurodegenerative disease. Progressive cerebellar ataxia is the main symptom in affected dogs, but episodic nystagmus (involuntary eye movement) can also manifest. Behavioral changes such as increased aggression or depression worsen as the disease progresses. First signs appear between 4 months and 4 years of age. Depending on how the disease develops, life expectancy can be mildly or severely affected.

Inheritance: autosomal recessive - read more

Mutation: ATG4D 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.