Neuronal Ceroid Lipofuscinosis 1

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.