ORIGINAL COMMUNICATION

Journal of Neurology

, Volume 254, Issue 2, pp 210-214

First online:

Characterization of a familial case with primary erythromelalgia from Taiwan

  • Ming-Jen LeeAffiliated withDept. of Neurology, National Taiwan University HospitalDept. of Medical Genetics, National Taiwan University Hospital
  • , Hsin-Su YuAffiliated withDept. of Dermatology, National Taiwan University Hospital
  • , Sung-Tsang HsiehAffiliated withDept. of Neurology, National Taiwan University HospitalInstitute of Anatomy and Cellular Biology, National Taiwan University School of Medicine
  • , Dennis A. StephensonAffiliated withDept. of Molecular Neuroscience, Institute of Neurology
  • , Chien-Jung LuAffiliated withDept. of Neurology, National Taiwan University Hospital
  • , Chih-Chao YangAffiliated withDept. of Neurology, National Taiwan University Hospital Email author 

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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