Clinical presentation was associated with RFC1 expansion mutation status (φc = 0.381, P < 0.001): the RFC1-positive/biallelic AAGGGexp occurred in 21/40 (53%, CI 95% 36–68%) pure sensory CIAP, 10/56 (18%, CI 95% 9–30%) predominantly sensory and 3/138 (2%, CI 95% 0–6%) sensorimotor neuropathy cases (Fig. 2). The gene discussed is RFC1; the disease is Sensorimotor neuropathy.