Neuronal Ceroid Lipofuscinosis 1

Body function:

Muscle & Neurological

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Neuronal ceroid lipofuscinosis Type 1 (NCL1) is a rare lysosomal storage disease affecting various dog breeds, including Dachshunds and Cane Corsos. This condition arises from a mutation in the PPT1 gene, which is crucial for producing the enzyme palmitoyl protein thioesterase. This enzyme helps break down certain proteins in cells. The specific mutations involved are a 1 bp insertion (ins C) in the PPT1 gene for Dachshunds and a G>A substitution in the same gene for Cane Corsos. When the PPT1 enzyme is nonfunctional due to these mutations, waste products accumulate in lysosomes, leading to severe neurological symptoms.

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List of affected breeds:

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

Dachshund

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What does this mean for a dog with this trait?

Currently, there is no treatment for NCL1. Management focuses on symptom relief and ensuring the dog’s comfort. This includes providing a safe environment to prevent injuries due to balance issues, addressing behavioral changes, and managing seizures.

Symptoms

In Dachshunds, symptoms typically begin around 9 months of age, while in Cane Corsos, they appear around 8 months. Early signs include a lack of muscle coordination, abnormal gait, and difficulty jumping. As the disease progresses, affected dogs may experience behavioral changes, including aimless wandering, confusion, aggression, loss of learned behaviors, blindness, and seizures. Symptoms tend to worsen rapidly, and dogs are often euthanized by 14 months of age in Dachshunds or shortly after symptoms appear in Cane Corsos.

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