Fast responses to stepping on an unexpected surface height depend on intact large-diameter nerve fibers: a study on Charcot-Marie-Tooth type 1A disease.

The contribution of reflexes from the large myelinated afferents in the control of normal and perturbed gait in humans is a highly debated issue. One way to investigate this topic is by studying normal and perturbed gait in patients lacking large myelinated fibers in the distal limb (Charcot-Marie-Tooth [CMT] type 1A disease). Such patients should have delayed and decreased reflexes if the latter depend on these large myelinated fibers. To elicit the reflexes, both patients and controls had to step on a platform that was either at the same level or lowered by 5 cm. In control subjects, landing on a level surface induced short-latency responses in the biceps femoris and tibialis anterior muscles, whereas such responses were largely absent in the patients. Similarly, stepping down unexpectedly induced a very fast muscle synergy, leading to a brake of the forward propulsion in the controls, which was significantly reduced and delayed (on average 32 ms) in the patients. The observed changes correlated with both sensory and motor deficits. Nevertheless, it is concluded that the results are primarily related to the sensory deficits, since the delayed or absent responses appeared in both upper and lower leg muscles, whereas only the latter showed motor deficits. The data are taken as evidence that large-diameter afferents from the distal leg are essential for fast reflex activations induced by stepping on a level or lowered surface unexpectedly.