Breeds Affected: Lagotto Romagnolo
Samples Accepted: Blood, Buccal Swabs
Disease Information: Lagotto Storage disease (LSD) is a neurodegenerative vacuolar storage disease and is usually diagnosed between 4 months and 4 years of age. Affected dogs show symptoms including progressive ataxia, gait abnormalities, abnormal eye movements (nystagmus) and behavioral changes (restlessness, aggression and depression). The condition is progressive and affected dogs usually need to be humanely euthanized.
Inheritance Information: Lagotto Storage disease (LSD) is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/lsd The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/lsd carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
lsd/lsd The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/lsd carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/lsd x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/lsd x N/lsd) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (lsd/lsd) should not be used for breeding.
Test Information: This mutation test identifies a single basepair change in the autophagy related 4D, cysteine peptidase gene (ATG4D).
Kyöstilä, K., Syrjä, P., Jagannathan, V., Chandrasekar, G., Jokinen, T.S., Seppälä, E.H., Becker, D., Drögemüller, M., Dietschi, E., Drögemüller, C., Lang, J., Steffen, F., Rohdin, C., Jäderlund, K.H., Lappalainen, A.K., Hahn, K., Wohlsein, P., Baumgärtner, W., Henke, D., Oevermann, A., Kere, J., Lohi, H., Leeb, T. : A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. PLoS Genet 11:e1005169, 2015. Pubmed reference: 25875846. DOI: 10.1371/journal.pgen.1005169.
Further information is available at the Online Mendelian Inheritance in Animals website.