This is a Multisystem condition.
This form of lysosomal storage disease is specific to the Lagotto Romagnolo and can cause juvenile or adult-onset neurologic symptoms that require close monitoring and supportive care. LSD arises from a defect in the enzyme ATG4D, which plays a large role in the autophagy pathway. Autophagy describes the process by which the cell recycles damaged or malfunctioning parts of itself including old transport vesicles, organelles, and macromolecules. Loss of ATG4D stops the autophagy pathway in its tracks, causing cellular accumulation of old parts and eventual cellular malfunction and death. The central nervous system suffers the most detrimental effects of this accumulation. Affected dogs begin to show signs of disease between the ages of 4 months to 4 years; these can include changes in behavior, uncoordinated movement, and seizures.
Ataxia, behavioral changes, and abnormal eye movements can be seen with this disorder.
Signs can have a juvenile (4 months) to adult (4 years) onset.
Genetic and laboratory testing used to diagnose this disease.
There is no treatment except supportive care for the clinical signs the affected dog develops.
