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: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.
Disease control: read more
Affected breeds: Lagotto Romagnolo
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.