AD-ANCL is a rare multisystem neurodegenerative disorder characterized by intracellular accumulation of macromolecular debris [4, 5], caused by p.L115R (Fig. 1) and p.L116Δ mutations in DNAJC5/CLN4B/CSPα [6, 7, 8]. The gene discussed is DNAJC5; the disease is adult neuronal ceroid lipofuscinosis.