Frontiers in Neurology (Aug 2012)

A locus identified on chromosome18p11.31 is associated with hippocampal abnormalities in a family with mesial temporal lobe epilepsy

  • Claudia Vianna Maurer-Morelli,
  • Rodrigo eSecolin,
  • Marcia Elisabete eMorita,
  • Romenia Ramos Domingues,
  • Rafael Breglio Marchesini,
  • Neide Ferreira Santos,
  • Eliane eKobayashi,
  • Fernando eCendes,
  • Iscia eLopes-Cendes

DOI
https://doi.org/10.3389/fneur.2012.00124
Journal volume & issue
Vol. 3

Abstract

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We aimed to identify the region harboring a putative candidate gene associated with hippocampal abnormalities (HAb) in a family with mesial temporal lobe epilepsy (MTLE). Genome-wide scan was performed in one large kindred with MTLE using a total of 332 microsatellite markers at ~12cM intervals. An additional 13 markers were genotyped in the candidate region. Phenotypic classes were defined according to the presence of hippocampal atrophy and/or hyperintense hippocampal T2 signal detected on magnetic resonance imaging. We identified a significant positive LOD score on chromosome 18p11.31 with a Zmax of 3.12 at D18S452. Multipoint LOD scores and haplotype analyses localized the candidate locus within a 6cM interval flanked by D18S976 and D18S967. We present here evidence that HAb, which were previously related mainly to environmental risk factors, may be influenced by genetic predisposition. This finding may have major impact in the study of the mechanisms underlying abnormalities in mesial temporal lobe structures and their relationship with MTLE.

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