Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred

Neurogenetics. 2009 Jul;10(3):191-8. doi: 10.1007/s10048-008-0169-6. Epub 2009 Jan 20.

Abstract

We sought to map the disease-causing gene in a large Spanish kindred with familial hemiplegic migraine (FHM). Patients were classified according to the ICHD-II criteria. After ruling out linkage to known migraine genetic loci, a single nucleotide polymorphism-based, 0.62-cM density genome-wide scan was performed. Among 13 affected subjects, FHM was the prevailing migraine phenotype in six, migraine with aura in four and migraine without aura in three. Linkage analysis revealed a disease locus in a 4.15-Mb region on 14q32 with a maximum two-point logarithm of odds (LOD) score of 3.1 and a multipoint parametric LOD score of 3.8. This genomic region does not overlap with the reported migraine loci on 14q21-22. Sequence analysis of three candidate genes in the region, SLC24A4, ATXN3 and ITPK1, failed to show disease-causing mutations in our patients. Genetic heterogeneity in FHM may be greater than previously suspected.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 14*
  • DNA Mutational Analysis
  • Female
  • Genetic Heterogeneity
  • Genetic Linkage*
  • Genetic Predisposition to Disease
  • Genome, Human
  • Genome-Wide Association Study
  • Humans
  • Lod Score
  • Male
  • Migraine with Aura / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Spain