A common pathological mechanism of axonal neurofilament dysregulation is likely to be responsible for neuropathy in the case of both dominant and recessive NEFL mutations as well as in other disorders caused by NFL aggregation (Zhang et al., 1997; Bomont et al., 2000; Evgrafov et al., 2004; Balastik et al., 2008; Didonna and Opal, 2019). The gene discussed is NEFL; the disease is neuropathy.