In a recent study, a 30-bp duplication in the DNAJC5 gene (p.C124_C133dup) has been identified in two brothers, whose mother died from AD-ANCL at the age of 56 (Jedličková et al., 2020), indicating the association between DNAJC5 genotype and clinical phenotype. This evidence concerns the gene DNAJC5 and adult neuronal ceroid lipofuscinosis.