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Neuronal Ceroid Lipofuscinosis 5 (Discovered in the Golden Retriever)

Neuronal Ceroid Lipofuscinosis 5 (NCL5) is a progressive neurological disorder characterized by uncoordinated movements, behavioral changes, vision loss, and epileptic seizures. The associated genetic variant has been identified in the Golden Retriever.

Found in

1 in 5,000 dogs

in our testing

Key Signs

Uncoordinated movement, Seizures, Behavioral changes, Vision impairment

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 NCL5

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 NCL5

Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive neurodegenerative lysosomal storage disorders. NCLs are characterized by excessive accumulation of lipofuscin and ceroid lipopigments in the central nervous system and other tissues. The age of onset for dogs affected with Neuronal Ceroid Lipofuscinosis 5 (NCL5) can vary, with the average age diagnosis between 1 to 2 years old. Similarly, severity of initial clinical signs can vary between affected individuals. Typical signs of NCL5 include vision impairment, epileptic seizures, ataxia (uncoordinated movements), and behavioral changes, such as hyperactivity and aggression. Some affected dogs can exhibit pacing, circling behaviors or air biting and gum smacking. Due to the progressive nature of NCL5, the average prognosis is considered poor for affected dogs. And the average life expectancy is less than 2.5 years.

As there is no cure for this disorder, treatment is limited to supportive care. Affected dogs are often euthanized on welfare grounds within six months of diagnosis due to the progression of clinical signs.

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 disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Neuronal Ceroid Lipofuscinosis 5 (Discovered in the Golden Retriever) variant can be safely bred with a clear dog with no copies of the Neuronal Ceroid Lipofuscinosis 5 (Discovered in the Golden Retriever) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. 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 disorder signs similar to the ones associated with this NCL5 variant could develop due to a different genetic or clinical cause.

Technical Details

Gene CLN5
Variant
Chromosome 22

References & Credit

Credit to our scientific colleagues:

Gilliam, D., Kolicheski, A., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Katz, M.L. (2015). Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab, 115(2-3), 101-9. [View the article](https://doi.org 10.1016/j.ymgme.2015.04.001)