Mutations, dominant missense (Mersiyanova et al., 2000; Yoshihara et al., 2002; Jordanova et al., 2003; Stone et al., 2019), and recessive nonsense (Abe et al., 2009; Yum et al., 2009; Fu and Yuan, 2018; Sainio et al., 2018; Stone et al., 2019) in the neurofilament light (NEFL) gene cause Charcot–Marie–Tooth neuropathy (CMT), highlighting the important role of neurofilaments in motor and sensory neurons. Here, NEFL is linked to Charcot-Marie-Tooth disease.