Annals of neurology
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Annals of neurology · Mar 2006
Case Reports Comparative StudySporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.
Inherited erythermalgia (erythromelalgia) is an autosomal dominant disorder in which patients experience severe burning pain in the extremities, in response to mild thermal stimuli and exercise. Although mutations in sodium channel Na(v)1.7 have been shown to underlie erythermalgia in several multigeneration families with the disease that have been investigated to date, the molecular basis of erythermalgia in sporadic cases is enigmatic. We investigated the role of Na(v)1.7 in a sporadic case of erythermalgia in a Chinese family. ⋯ Founder mutations in Na(v)1.7, which can confer hyperexcitability on peripheral sensory neurons, can underlie sporadic erythermalgia.
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Annals of neurology · Mar 2006
Comparative Study Clinical TrialPosterior hypothalamic activation in paroxysmal hemicrania.
Paroxysmal hemicrania (PH) is a severe, strictly unilateral headache that lasts 2 to 30 minutes, occurs more than five times daily, is associated with trigeminal autonomic symptoms, and is exquisitely responsive to indomethacin. The purpose of the study was to determine the brain structures active in PH. ⋯ These activated subcortical structures may play a pivotal role in the pathophysiology of this syndrome.