Mutations (p.L116del and p.L115R) in the cysteine string domain of DNAJC5 have previously been identified as causes for an autosomal-dominant, adult-onset neuronal ceroid lipofuscinosis (ANCL, also referred to as Kufs disease), a neurodegenerative disorder characterized by abnormal accumulation of fluorogenic lipids, granular substances not only in the neuronal cells in the brain but also in some other tissues (Noskova et al., 2011; Velinov et al., 2012; Cadieux-Dion et al., 2013). Here, DNAJC5 is linked to adult neuronal ceroid lipofuscinosis.