Familial dysautonomia is a hereditary sensory and autonomic neuropathy (HSAN type III), expressed at birth, that is associated with reduced or absent pain and temperature sensibilities, postural hypotension, absent baroreflex function and labile blood pressure that increases markedly during emotional excitement (Norcliffe-Kaufmann et al., 2010). Given the absent baroreflex function we tested the hypothesis that cardiac-locked bursts of muscle sympathetic nerve activity (MSNA) are absent in familial dysautonomia. Tungsten microelectrodes were inserted percutaneously into muscle or cutaneous fascicles of the common peroneal nerve in 10 patients with FD. Spontaneous bursts of MSNA were absent, but we found evidence of tonically firing sympathetic neurones that increased during emotional arousal. Conversely, skin sympathetic nerve activity (SSNA) appeared normal. We conclude that the loss of phasic bursts of MSNA and the loss of baroreflex modulation of muscle vasoconstrictor drive contribute to the poor control of blood pressure in familial dysautonomia.
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© 2010 Published by Elsevier Inc.