Mutations in DNAJC5 have recently been reported in sporadic adult-onset cases and families with dominant inheritance.[18] The mutation observed in our patient is likely a pathogenic variant that has been identified in several ANCL patients.[19] The leucine residues at positions 115 and 116 are hotspots for mutations and result in a homogeneous phenotype of progressive myoclonic epilepsy with onset at approximately 30 years of age.[19]. Here, DNAJC5 is linked to adult neuronal ceroid lipofuscinosis.