Lagotto Storage Disease
Lagotto Storage Disease (LSD) is a neurological disorder resulting in a progressive incoordination, poor balance and behavior changes.
Key Signs
Ataxia, Episodic nystagmus, Behavior changes
Age of Onset
0 to 2 yrs
Juvenile onset
Inheritance
Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
Likelihood of the Condition
High likelihood
At risk dogs are highly likely to show signs of this disease in their lifetime.
What to Do
Here’s how to care for a dog with LSD
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
For Veterinarians
Here’s what a vet needs to know about LSD
The onset of clinical signs and pattern of progression vary considerably between individuals. The first signs can be seen at the age of 4 months to 4 years. Typically the first observable sign of LSD is usually progressive ataxia (uncoordinated movements), which may not be noticed by the owner. Some of the affected dogs also suffer from episodic nystagmus (involuntary eye movement). In some cases, nystagmus is the first sign noticed. Lagotto storage disease is a progressive condition leading to behavioral changes such as restlessness, depression, and aggression. The life expectancy of affected dogs depends on the progression of the disorder and the severity of the signs. Some dogs can live for several years with mild signs, but dogs with severe clinical signs are usually euthanized earlier.
Progression of clinical signs in affected dogs should be carefully monitored. Owners should be advised on how to best support their pets as clinical sign worsen, such as avoiding unfamiliar circumstances and offering reassurance. Affected dogs with deteriorating quality of life due to disease progression are usually euthanized on welfare grounds.
For Breeders
Planning to breed a dog with this genetic variant?
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the LSD mutation can be safely bred with a clear dog with no copies of the LSD mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the LSD mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the LSD mutation could develop due to a different genetic or clinical cause.
Technical Details
| Gene | ATG4D |
|---|---|
| Variant | G>A |
| Chromosome | 20 |
| Coordinate | 50,618,958 |
All coordinates reference CanFam3.1
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References & Credit
Credit to our scientific colleagues:
Kyöstilä, K., Syrjä, P., Jagannathan, V., Chandrasekar, G., Jokinen, T. S., Seppälä, E. H., … Leeb, T. (2015). A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease. PLoS Genetics, 11(4), 1–22. View the article
