PGP9.5 immunostaining is considered as a diagnostic tool in the study of peripheral neuropathies, which, in PRDM12-CIP case, revealed the absence of PGP9.5 reactive nerve endings in patient epidermis (Chen et al., 2015; Van Acker et al., 2016). Here, UCHL1 is linked to hereditary sensory and autonomic neuropathy.