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Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Saluki)

Neuronal Ceroid Lipofuscinosis 8 (NCL8) is a progressive neurologic disease characterized by uncoordinated movements, behavioral changes, vision loss, and seizures.

Key Signs

Vision impairment, Lack of coordination, Behavioral changes, Seizures

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 NCL8

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 NCL8

The first signs of NCL8 are usually observed at the age of 10-18 months of age. The clinical signs include ataxia (uncoordinated movements), behavioral changes, vision loss, and seizures. NCL8 is a progressive condition. The lifespan of affected dogs is rarely over two years of age due to severity of the clinical signs. Histopathologic findings include positive Sudan black B and periodic acid Schiff staining aggregates within neurons and retinal tissue with autofluorescence.

Upon initial observation of clinical signs, affected dogs should be closely monitored to assess welfare and devise a supportive care treatment plan. Due to the progressive nature of the disease, affected dogs are often euthanized for welfare reasons by 2 years of age.

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 NCL8 mutation can be safely bred with a clear dog with no copies of the NCL8 mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the NCL8 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 NCL8 mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene CLN8
Variant Insertion
Chromosome 37
Coordinate Start 30,874,636
Coordinate End 30,874,637

All coordinates reference CanFam3.1

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References & Credit

Credit to our scientific colleagues:

Lingaas, F., Guttersrud, O. A., Arnet, E., & Espenes, A. (2018). Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. Animal Genetics, 49(1), 52–58. View the article