DHTKD1 and Motor axonal neuropathy: NCS were available in 9/10 DHTKD1 variant carriers, showing axonal and demyelinating motor neuropathy in 4/9 cases (VALS054, VALS102, VALS095, VALS001), axonal motor neuropathy in 5/9 cases (VALS046, MD011, MD022, VALS164, MD025), and additional sensory neuropathy in 4/9 cases (axonal and demyelinating in VALS054 and VALS095, axonal in MD022 and MD025) with matching clinical signs including pallhypaesthesia, hypaesthesia or reduced sharp/blunt differentiation.