[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene].
Primary erythermalgia is a rare autosomal dominant inherited disorder characterized by recurrent attacks of red, warm and painful burning extremities. The gene involved in primary erythermalgia, SCN9A, encodes for a voltage dependent sodium channel alpha subunit (NaV1.7). NaV1.7 is located in dorsal root ganglions and in nociceptive peripheral neurons. It has been hypothesized that mutations lead to a gain of function and hyperexcitability of peripheral sensory neurons contributing to symptoms in primary erythermalgia.
Universitair Medisch Centrum St Radboud, afd. Maag-, Darm- en Leverziekten, 547, Postbus 9101, 6500 HB Nijmegen. joostphdrenth@cs.com
J P H
JP
Drenth
R H M
RH
te Morsche
J J
JJ
Michiels
D004916:Erythromelalgia / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation; D062556:NAV1.7 Voltage-Gated Sodium Channel; D009422:Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D015222:Sodium Channels / Q000235:genetics / Q000378:metabolism
D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human; D015222:Sodium Channels