Variants in the KIF5A gene has been previously linked to autosomal dominant hereditary spastic paraparesis (SPG10) and to Charcot–Marie–Tooth disease type 2 (CMT2; Reid et al., 2002; Crimella et al., 2016; Liu et al., 2014; Jennings et al., 2017). Here, KIF5A is linked to Charcot-Marie-Tooth disease type 2.