Neuronal Ceroid Lipofuscinosis - NCL

 

Overview

NCL is a collective of neurological storage diseases that results in pathological degenerative changes in the central nervous system. Storage diseases primarily affect the cerebellum; however they can affect multiple areas of the brain and spinal cord, resulting in cerebellar dysfunction leading to mental and motor degeneration, seizures and early death.

Severity - 5

NCL has a very high degree of severity, as the central nervous system degenerates the quality of life decreases as well as the affected dog’s lifespan, many failing to survive 5 years of age.

Symptoms

NCL is characterized by progressive mental and motor deterioration, signs usually include over-expressed and unintentional muscle movements as well as the loss of coordination. Symptoms usually appear around 2-3 years of age. Affected dogs will usually adopt a wide stance, occasional muscle twitching and general degeneration of motor functions.

Sadly most affected dogs die or are euthanized before 5 years of age.

Genetic Testing

Animal Network provides a DNA test that determines the genetic predisposition to NCL.

Neuronal Ceroid Lipofuscinosis is an autosomal recessive disease. A recessive phenotype (trait or disease) will only be expressed when two copies of the recessive gene variant are present. A direct gene test can detect whether a dog is clear, carrier or is affected by the disease.

A dog with two copies of the recessive gene variant is affected, they will express the phenotype and will pass a copy of the gene variant onto their offspring 100% of the time. A dog with one copy of the recessive gene variant is a carrier, they do not express the phenotype themselves, however they are will pass the gene variant onto their offspring 50% of the time. A dog that has does not have any copies of the recessive gene variant is clear, and will never produce affected offspring.

Genetic testing is highly recommended due to the seriousness of the disease, even if no symptoms are present. It is advised that carriers are monitored in breeding programs and are not mated with other carriers in order to prevent the production of affected pups.

For an explanation of possible genetic status of offspring please refer to our fact sheet on Breeding Strategies. ORDER A TEST

Breeds Affected

Border Collie


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