Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

Abstract

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.

• Authors: Jan J Michiels, Rene H M te Morsche, Jan B M J Jansen, Joost P H Drenth
• Journal: Archives of neurology (Arch Neurol) Vol. 62 Issue 10 Pg. 1587-90 (Oct 2005) ISSN: 0003-9942 [Print] United States
• PMID: 16216943 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Sodium Channels

Topics

• Adolescent
• Adult
• Amino Acid Sequence
• Child
• Child, Preschool
• Chromosome Disorders (genetics)
• Erythromelalgia (genetics)
• Female
• Humans
• Male
• Middle Aged
• Mutation
• Pedigree
• Phenotype
• Polymerase Chain Reaction
• Sequence Homology, Amino Acid
• Sodium Channels (genetics)