The most frequent NPC1 mutation in Western Europe and the US, p.I1061T [27-32], associated mostly with the juvenile-onset form of the disease, was detected in the Czech cohort in one patient with the early infantile form (patient 7, Table 2), two patients with the late infantile form (patients 8 and 11, Table 3) and in the oldest adult NPC patient (patient 7, Table 5). This evidence concerns the gene NPC1 and nasopharyngeal carcinoma.