A total of 28 mutations have been investigated in genes (CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10, CLN13, CLN14, and CLCN2) in 28 NCL patients; one mutation was detected in YIF1B gene in one patient who showed symptoms of Kaya-Barakat-Masson syndrome, and one was demonstrated in PLA2G6 gene of one patient who was suspected to have infantile neuroaxonal dystrophy disease. This evidence concerns the gene CLN5 and neuronal ceroid lipofuscinosis.