Journal of Neurology

, Volume 254, Issue 2, pp 210–214 | Cite as

Characterization of a familial case with primary erythromelalgia from Taiwan

  • Ming-Jen Lee
  • Hsin-Su Yu
  • Sung-Tsang Hsieh
  • Dennis A. Stephenson
  • Chien-Jung Lu
  • Chih-Chao Yang
ORIGINAL COMMUNICATION

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

erythromelalgia SCN9A Nav1.7 skin biopsy 

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Copyright information

© Steinkopff Verlag Darmstadt 2007

Authors and Affiliations

  • Ming-Jen Lee
    • 1
    • 2
  • Hsin-Su Yu
    • 3
  • Sung-Tsang Hsieh
    • 1
    • 4
  • Dennis A. Stephenson
    • 5
  • Chien-Jung Lu
    • 1
  • Chih-Chao Yang
    • 1
  1. 1.Dept. of NeurologyNational Taiwan University HospitalTaipeiTaiwan
  2. 2.Dept. of Medical GeneticsNational Taiwan University HospitalTaipeiTaiwan
  3. 3.Dept. of DermatologyNational Taiwan University HospitalTaipeiTaiwan
  4. 4.Institute of Anatomy and Cellular BiologyNational Taiwan University School of MedicineTaipeiTaiwan
  5. 5.Dept. of Molecular NeuroscienceInstitute of NeurologyLondonUK

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