DSMAV and CMT2D can be caused by the same GARS1 mutations (Sivakumar et al., 2005; Del Bo et al., 2006), suggesting that these conditions represent a spectrum of GARS1 associated axonal neuropathy, rather than distinct diseases (Sivakumar et al., 2005; Sleigh et al., 2017a). This evidence concerns the gene GARS1 and axonal neuropathy.