Neuronal Ceroid Lipofuscinosis 8

Body function:

Muscle & Neurological

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Neuronal ceroid lipofuscinosis 8 (NCL8) is a rare genetic disorder that primarily affects certain breeds of dogs, including English Setters, Gordon Setters, Irish Setters, and Llewellin Setters. This condition is caused by a mutation in the CLN8 gene, specifically a G>A change at chromosome 37 position 30883950. NCL8 is inherited in an autosomal recessive manner, meaning that a dog must inherit the mutated gene from both parents to develop the disease. The disorder leads to the accumulation of waste products in the lysosomes, which impairs cell function and eventually causes cell death. This results in progressive neurological symptoms that typically begin between 8 and 12 months of age.

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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

English Setter

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What does this mean for a dog with this trait?

There is currently no treatment available for NCL8, and research into gene therapy is still in its early stages. Care for affected dogs focuses on managing symptoms and ensuring their comfort. This includes providing a safe living environment to prevent injury due to balance issues, offering supportive care to address behavioral changes, and monitoring for and managing seizures.

Symptoms

Dogs affected by NCL8 show a range of neurological problems that worsen over time. Early signs include behavioral changes such as increased sensitivity to sounds, loss of learned behaviors like housetraining, and decreased responsiveness to commands. As the disease progresses, dogs may experience mental dullness, weakness, compulsive movements, anxiety, aggression, loss of balance, blindness, and seizures. The disease usually progresses rapidly, with affected dogs often succumbing to it by the age of 2 years.

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