Lagotto storage disease (LSD)
Lagotto storage disease (LSD)
General description
The Lagotto Storage Disease (LSD) is a storage disease with neurodegenerative symptoms, which leads to cerebellar damage in affected animals. First symptoms appear at an age of four months to four years.
Breeds
Lagotto Romagnolo
Order details
| Test number | 8270 |
| Abbreviation | LSD |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive with variable penetrance |
| Age of onset | 4 months - 4 years |
| Causality | causally |
| Gene | ATG4D |
| Mutation | C-T |
| Literature | OMIA:001954-9615 |
Detailed description
The Lagotto Storage Disease (LSD) is a storage disease with neurodegenerative symptoms, which leads to cerebellar damage in affected animals. These are the cause of dysfunction in movement coordination and balance. In some affected dogs, abnormal eye motion (nystagmus) as well as behavioural changes like aggression and restlessness can be detected. First symptoms appear at an age of four months to four years.
