Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy

Atunomic Neuropathy

Hereditary Sensory Neuropathy, Autonomic Neuropathy, Familial Dysautonomia, proprioception, motor control, sensory nervous system., HSAN III, IKBKAP gene mutation

This project comprises three sets of physiological studies - testing eight specific hypotheses - that will contribute new knowledge on proprioception and motor control in a genetic disorder that affects specific components of the sensory nervous system. I: To investigate the neurophysiological basis for disturbed motor control in Hereditary sensory and autonomic neuropathy (HSAN) III II: To investigate the effects of enhancing cutaneous feedback on motor control in HSAN III III: To investigate the cortical representation of proprioceptive inputs in HSAN III

HSAN III patients (n=15) and healthy control subjects (n=15) will lay supine on an MRI bed and a tungsten microelectrode inserted percutaneously into a muscle or cutaneous fascicle of the right common peroneal nerve at the fibular head, according to standard techniques employed by Prof Macefield. Neural activity will be acquired, RMS-processed (200 ms) and analysed on computer. The subject's head will be tightly enclosed in a standard clinical 32-channel SENSE head coil and headphones will be provided to minimize noise and to allow communication with the subject. The subject will be placed in the bore of a 3T whole-body scanner for 60-90 minutes.

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United States