Six patients (14.0%; IDs 36–41) were diagnosed with neuronal ceroid lipofuscinosis type 2 (CLN2) caused by variants in Tripeptidyl peptidase 1 (TPP1)/(CLN2); five patients were homozygous for the c.622C>T p.(Arg208*) nonsense variant, while the sixth patient was homozygous for the c.533del p.(Pro178Glnfs*5) frameshift variant. This evidence concerns the gene TPP1 and neuronal ceroid lipofuscinosis 2.