Pain Disorders and Erythromelalgia Caused by Voltage-Gated Sodium Channel Mutations

被引:0
作者
Ron Dabby
机构
[1] Wolfson Medical Center,Neuromuscular Service, Department of Neurology
[2] Tel Aviv University,Sackler School of Medicine
来源
Current Neurology and Neuroscience Reports | 2012年 / 12卷
关键词
Sodium channels; gene; Na; 1.7; Inherited erythromelalgia; Paroxysmal extreme pain disorder; Small fiber neuropathy; Neuropathic pain; Congenital insensitivity to pain;
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学科分类号
摘要
Voltage-gated sodium channels play a pivotal role in pain transmission. They are widely expressed in nociceptive neurons, and participate in the generation of action potentials. Alteration in ionic conduction of these channels causes abnormal electrical firing, thus renders neurons hyperexcitable. So far, mutations in the Nav1.7 sodium channel, which is expressed in the dorsal root ganglia cells and sympathetic neurons, have been described to cause perturbations in pain sensation. Until recently, gain-of-function Nav1.7 mutations were known to cause two neuropathic pain syndromes: inherited erythromelalgia and paroxysmal extreme pain syndrome. These syndromes are inherited in a dominant trait; they usually begin in childhood or infancy, and are characterized by attacks of severe neuropathic pain accompanied with autonomic symptoms. Recently, small fiber neuropathy and chronic nonparoxysmal pain have been described in patients harboring gain-of-function mutations in Nav1.7 channel. Loss-of-function mutations in Nav1.7 are extremely rare, and invariably cause congenital inability to perceive pain.
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页码:76 / 83
页数:7
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