Neuronal Ceroid Lipofuscinosis 10

Body function:

Muscle & Neurological

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Neuronal ceroid lipofuscinosis Type 10 (NCL10) is a rare lysosomal storage disease identified in American Bulldogs and other bully breeds. It is caused by a mutation in the CTSD gene, which encodes the enzyme cathepsin D. This enzyme is crucial for breaking down proteins within cells. The specific mutation is a G>A substitution in the CTSD gene. When cathepsin D is deficient, waste products accumulate, leading to progressive neurological symptoms.

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List of affected breeds:

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

American Bulldog

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What does this mean for a dog with this trait?

Currently, there is no cure for NCL10. Management focuses on providing supportive care to maintain quality of life. This includes ensuring a safe environment to prevent injuries due to balance issues, addressing behavioral changes, and managing seizures.

Symptoms

NCL10 typically manifests between 1 and 3 years of age, with symptoms gradually worsening over time. Early signs include a lack of muscle coordination, abnormal gait, and difficulty balancing. As the disease progresses, dogs may experience mental dullness, vision loss, weakness, tremors, seizures, and aggressive behaviors. The disease's progression is slow, but dogs often need to be euthanized within 2 to 4 years of diagnosis.

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