Neurogenetics

, Volume 5, Issue 2, pp 141–146

A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2

  • M. A. Kaunisto
  • H. Harno
  • K. R. J. Vanmolkot
  • J. J. Gargus
  • G. Sun
  • E. Hämäläinen
  • E. Liukkonen
  • M. Kallela
  • A. M. J. M. van den Maagdenberg
  • R. R. Frants
  • M. Färkkilä
  • A. Palotie
  • M. Wessman
Short Communication

DOI: 10.1007/s10048-004-0178-z

Cite this article as:
Kaunisto, M.A., Harno, H., Vanmolkot, K.R.J. et al. Neurogenetics (2004) 5: 141. doi:10.1007/s10048-004-0178-z

Abstract

Familial hemiplegic migraine (FHM), a rare autosomal dominant subtype of migraine with aura, has been linked to two chromosomal loci, 19p13 and 1q23. Mutations in the Na+,K+-ATPase α2 subunit gene, ATP1A2, on 1q23 have recently been shown to cause familial hemiplegic migraine type 2 (FHM2). We sequenced the coding regions of this gene in a Finnish chromosome 1q23-linked FHM family with associated symptoms such as coma and identified a novel A1033G mutation in exon 9. This mutation results in a threonine-to-alanine substitution at codon 345. This residue is located in a highly conserved N-terminal region of the M4–5 loop of the Na+,K+-ATPase. Furthermore, the T345A mutation co-segregated with the disorder in our family and was not present in 132 healthy Finnish control individuals. For these reasons it is most likely the FHM-causing mutation in this family.

Keywords

Familial hemiplegic migraine Linkage DNA sequence analysis Na+-K+-exchanging ATPase Missense mutation 

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • M. A. Kaunisto
    • 1
    • 2
    • 11
  • H. Harno
    • 3
  • K. R. J. Vanmolkot
    • 4
    • 5
  • J. J. Gargus
    • 6
  • G. Sun
    • 6
  • E. Hämäläinen
    • 1
    • 2
  • E. Liukkonen
    • 7
  • M. Kallela
    • 3
  • A. M. J. M. van den Maagdenberg
    • 4
    • 5
  • R. R. Frants
    • 4
  • M. Färkkilä
    • 3
  • A. Palotie
    • 1
    • 2
    • 8
    • 9
  • M. Wessman
    • 1
    • 2
    • 10
  1. 1.Biomedicum Helsinki, Research Program in Molecular MedicineUniversity of HelsinkiHelsinkiFinland
  2. 2.Department of Clinical ChemistryUniversity of HelsinkiHelsinkiFinland
  3. 3.Department of NeurologyUniversity of HelsinkiHelsinkiFinland
  4. 4.Department of Human GeneticsLeiden University Medical CentreLeidenThe Netherlands
  5. 5.Department of NeurologyLeiden University Medical CentreLeidenThe Netherlands
  6. 6.Department of Physiology and Biophysics and Division of Human Genetics, Department of PediatricsUniversity of CaliforniaIrvineUSA
  7. 7.Department of Pediatric NeurologyUniversity of HelsinkiHelsinkiFinland
  8. 8.The Finnish Genome CenterUniversity of HelsinkiHelsinkiFinland
  9. 9.Departments of Pathology and Human GeneticsDavid Geffen School of Medicine at University of CaliforniaLos AngelesUSA
  10. 10.Folhälsan Research CenterInstitute of GeneticsHelsinkiFinland
  11. 11.Biomedicum Helsinki, Research Program in Molecular MedicineHelsinkiFinland

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