Neuronal Ceroid Lipofuscinosis 4A (Discovered in the American Staffordshire Terrier)
Neuronal Ceroid Lipofuscinosis Type 4A is a neurodegenerative disorder causing progressive loss of balance and coordination.
Key Signs
Ataxia, Severe cerebellar atrophy
Age of Onset
1 to 4 yrs
Junior to adult 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 NCL4A
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 NCL4A
Usual age of onset for NCL-4A is between 3 and 5 years. Affected dogs usually suffer from ataxia due to degeneration of the neurons controlling movement. Initial symptoms may include a wide-based stance, stumbling and loss of balance when turning corners, negotiating stairs, or walking uphill or downhill. Nystagmus and head tremors may also be present. The ataxia is progressive leading to intention tremors and frequent falling in later stages of the disease. Most affected dogs are euthanized 1 to 4 years after diagnosis due to welfare concerns.
There is no curative treatment for the disease. Affected dogs may be treated symptomatically but the disease is progressive.
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 develop. A carrier dog with one copy of the NCL4A mutation can be safely bred with a clear dog with no copies of the NCL4A mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the NCL4A mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Please note: It is possible that disease signs similar to the ones caused by the NCL4A mutation could develop due to a different genetic or clinical cause.
Technical Details
| Gene | ARSG |
|---|---|
| Variant | G>A |
| Chromosome | 9 |
| Coordinate | 15,071,276 |
All coordinates reference CanFam3.1
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References & Credit
Credit to our scientific colleagues:
Abitbol, M., Thibaud, J. L., Olby, N. J., Hitte, C., Puech, J. P., Maurer, M., … Tiret, L. (2010). A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proceedings of the National Academy of Sciences of the United States of America, 107(33), 14775–14780. View the article