Journal of Neurology

, Volume 254, Issue 2, pp 210–214

Characterization of a familial case with primary erythromelalgia from Taiwan

Authors

  • Ming-Jen Lee
    • Dept. of NeurologyNational Taiwan University Hospital
    • Dept. of Medical GeneticsNational Taiwan University Hospital
  • Hsin-Su Yu
    • Dept. of DermatologyNational Taiwan University Hospital
  • Sung-Tsang Hsieh
    • Dept. of NeurologyNational Taiwan University Hospital
    • Institute of Anatomy and Cellular BiologyNational Taiwan University School of Medicine
  • Dennis A. Stephenson
    • Dept. of Molecular NeuroscienceInstitute of Neurology
  • Chien-Jung Lu
    • Dept. of NeurologyNational Taiwan University Hospital
    • Dept. of NeurologyNational Taiwan University Hospital
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-006-0328-3

Cite this article as:
Lee, M., Yu, H., Hsieh, S. et al. J Neurol (2007) 254: 210. doi:10.1007/s00415-006-0328-3

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.

Keywords

erythromelalgiaSCN9ANav1.7skin biopsy

Copyright information

© Steinkopff Verlag Darmstadt 2007