Neuronal Ceroid Lipofuscinosis 6

Body function:

Muscle & Neurological

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Neuronal ceroid lipofuscinosis Type 6 (NCL-6) is a lysosomal storage disease that impacts Australian Shepherds. It is linked to a mutation in the CLN6 gene. This gene is involved in protein transport within cells, specifically helping proteins reach the lysosomes where they are processed. When CLN6 is mutated, it disrupts this process, leading to the accumulation of waste products, which results in severe neurological issues.

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List of affected breeds:

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

Australian Shepherd

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What does this mean for a dog with this trait?

Currently, there is no cure for NCL-6. Instead, treatment focuses on managing symptoms and maintaining the dog's quality of life. This may involve addressing behavioral issues, ensuring a safe environment, and providing supportive care. Given the severe nature of the disease and its rapid progression, early genetic testing is essential for Australian Shepherds.

Symptoms

Affected Australian Shepherds typically begin showing symptoms around 18 months of age. Early signs include loss of vision, behavioral changes, lack of muscle coordination, and abnormal gait. As the disease progresses, symptoms become more severe, leading to further neurological deterioration. Unfortunately, most affected dogs are humanely euthanized by the age of 2 due to the rapid progression of the disease.

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