Document Detail

Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.
MedLine Citation:
PMID:  16216943     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Autosomal dominant primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet. OBJECTIVE: To describe the phenotypes and molecular data of a 10-member family with 5 symptomatic living patients with erythermalgia. RESULTS: The clinical phenotype of this family was featured by episodic or continuous symmetrical red swelling, irritating warmth, and burning pain of feet and lower legs provoked or aggravated by warmth and exercise, and relief was always obtained by application of cold, such as putting feet in (ice-) cold water. The symptoms in this family were only partially controlled by analgesics and sedatives. All affected family members were heterozygous for a novel mutation (S241T) of the voltage-gated sodium channel alpha subunit Nav1.7. CONCLUSION: Primary erythermalgia may be a neuropathic disorder of the small peripheral sensory and sympathetic neurons, and may be caused by hyperexcitability of Nav1.7.
Jan J Michiels; Rene H M te Morsche; Jan B M J Jansen; Joost P H Drenth
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Archives of neurology     Volume:  62     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2005-10-11     Completed Date:  2005-11-15     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1587-90     Citation Subset:  AIM; IM    
Haemostasis and Thrombosis Research, Department of Haematology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
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MeSH Terms
Amino Acid Sequence
Child, Preschool
Chromosome Disorders / genetics*
Erythromelalgia / genetics*
Middle Aged
Polymerase Chain Reaction
Sequence Homology, Amino Acid
Sodium Channels / genetics*
Reg. No./Substance:
0/Sodium Channels

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