A Japanese family of autosomal dominant hypokalemic periodic paralysis with a CACNL1A3 gene mutation

Y. Ikeda, K. Abe, M. Watanabe, M. Shoji, B. Fontaine, Y. Itoyama, S. Hirai

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

Abstract

Recent genetic research revealed that hereditary periodic paralysis is an ion-channel disorder. Genetic linkage analysis has mapped the autosomal dominant hypokalemic periodic paralysis (HypoPP) locus to chromosome 1q31-32, where the dihydropyridine sensitive calcium channel α1 subunit (CACNL1A3) is located. Subsequently, two predominant missense point mutations were found in the CACNL1A3 gene. Both mutations substitute arginine to histidine (Arg528His and Arg1239His). The Arg528His mutation is characterized by incomplete penetrance in females, whereas Arg1239His is not. We analyzed Japanese hypokalemic periodic paralysis patients (familial, sporadic and thyrotoxic), and detected the Arg528His mutation in one HypoPP family. This family shows more severe symptoms in successive generations and the severity of the symptoms is higher in males than in females within the same family.

Original languageEnglish
Pages (from-to)441-445
Number of pages5
JournalEuropean Journal of Neurology
Volume3
Issue number5
DOIs
Publication statusPublished - 1996
Externally publishedYes

Keywords

  • CACNL1A3
  • Hypokalemic periodic paralysis
  • Incomplete penetrance
  • Missense mutation

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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