Characterization of a familial case with primary erythromelalgia from Taiwan
Journal
Journal of Neurology
Journal Volume
254
Journal Issue
2
Pages
210-214
ISSN
0340-5354
Date Issued
2007-02
Author(s)
Abstract
Familial primary erythromelalgia is a rare autosomal dominant disease characterized by redness and painful episodes of the feet and hands, which is often triggered by heat or exercise. In this report, a Taiwanese family with the characteristic features of erythromelalgia is described. Genetic linkage studies established that the disease locus maps to human chromosome 2. Sequence analysis indicated that the disease segregates with a novel mutation in the alpha subunit of the voltage-gated sodium channel (SCN9A or Nav1.7). The change observed is predicted to cause the substitution of a highly conserved isoluecine 136 for a valine within the first segment of the transmembrane domain (D1S1). Using immuno-histochemistry to stain a skin biopsy specimen from the affected region, we demonstrate that there is a significant reduction in the number of small fibers. ? 2007 Steinkopff Verlag.
SDGs
Other Subjects
isoleucine; valine; voltage gated sodium channel; adult; article; case report; chromosome 2; controlled study; erythromelalgia; familial disease; family; genetic linkage; human; human tissue; immunohistochemistry; male; mutation; nucleotide sequence; priority journal; sequence analysis; skin biopsy; staining; Taiwan
Type
journal article