Among frequently reported features, paresthesias (79% vs 59%, POR 2.68 CI 95% 1.11–6.45, P = 0.02) and autonomic disturbances of sort (35% vs 8%, POR 6.73 CI 95% 2.79–16.2, P < 0.001) seemed to be characteristic in RFC1-positive patients, whereas neuropathic pain was observed in similar numbers in both groups (59% vs 53%, POR 1.27 CI 95% 0.61–2.65, P = 0.53). The gene discussed is RFC1; the disease is Paresthesia.