A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2
- First Online:
- 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
- 122 Downloads
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.