specific treatment

Neuronal ceroid lipofuscinosis is a group of rare heredltary diseases with an incidence rate of 0.15 in 100 000 to 9 in 100 000. The disease is caused by mutations in CLN genes, which code various proteins - lyzosomal enzymes, transmembrane lyzosomal proteins, endoplasmic reticulum proteins, potassium, chlo­ride channels in lysosomes and ATPase. Neuronal ceroid lipofuscinosis type 2 is caused by a mutation in CLN2 gene, coding tripeptidyl-peptidase 1. This mutation reduces the concentration of the enzyme resulting in accumulation of lipopigment in lysosomes.