Neuronal Ceroid Lipofuscinosis 5

Body function:

Muscle & Neurological

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Neuronal ceroid lipofuscinosis Type 5 (NCL-5) is a genetic lysosomal storage disease affecting Border Collies and other breeds, such as Australian Cattle Dogs and Golden Retrievers. It is caused by a mutation in the CLN5 gene, which is crucial for the normal function of lysosomal enzymes. This mutation leads to the accumulation of waste products within nerve cells, resulting in progressive neurological symptoms.

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List of affected breeds:

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

Australian Cattle Dog, Border Collie

A black and white dog with a happy expression is looking up at the camera with its mouth open. The dog's ears are perked up, and it appears to be excited.

What does this mean for a dog with this trait?

While there is no cure for NCL-5, the focus of treatment is on supportive care. This approach aims to manage symptoms and maintain the dog's quality of life. It may include addressing behavioral issues, providing a safe environment to prevent injuries, and managing seizures.

Symptoms

NCL-5 typically becomes evident between 15 and 20 months of age. Early symptoms include behavioral changes, such as disinterest in play, non-responsiveness to commands, irrational fears, hallucinations, and aggression. As the disease progresses, dogs may experience ataxia (lack of coordination), seizures, aimless wandering, abnormal gait, lethargy, and vision loss. The condition generally worsens over time, and most affected dogs do not survive beyond 32 months.

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