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Seizure outcome and hippocampal atrophy in familial mesial temporal lobe epilepsy

E Kobayashi1, I Lopes-Cendes, C A Guerreiro

  • 1Department of Neurology, Faculdade de Ciências Médicas, University of Campinas-UNICAMP, Campinas, SP, Brazil.

Neurology
|February 13, 2001
PubMed
Abstract

Insights

Familial mesial temporal lobe epilepsy (MTLE) is a diverse condition. Hippocampal atrophy occurs in over half of patients, suggesting a complex relationship with epilepsy severity and a strong genetic influence.

Area of Science:

  • Neurology
  • Genetics
  • Medical Imaging

Background:

  • Familial mesial temporal lobe epilepsy (MTLE) presents a unique challenge in understanding its genetic underpinnings and clinical manifestations.
  • Previous studies have not fully elucidated the spectrum of clinical, genetic, and magnetic resonance (MR) imaging characteristics in familial MTLE.

Purpose of the Study:

  • To characterize the clinical, genetic, and MR findings in patients with familial mesial temporal lobe epilepsy (MTLE).
  • To investigate the prevalence and pattern of hippocampal atrophy in familial MTLE and its correlation with seizure outcomes.

Main Methods:

  • Systematic search for familial occurrence of MTLE based on family history of seizures.
  • Clinical evaluation, electroencephalography (EEG), and MR imaging of probands and affected family members.
  • Analysis of MR findings, specifically hippocampal atrophy and T2 signal changes, in relation to epilepsy severity and seizure control.

Main Results:

  • Twenty-two unrelated families with familial MTLE were identified, involving 98 individuals with seizure history.
  • Sixty-eight patients met diagnostic criteria for MTLE; 57% (48/84) showed hippocampal atrophy on MRI.
  • Hippocampal atrophy was present in patients with seizure remission (46%), good seizure control (51%), and refractory MTLE (100%), as well as in some with other seizure types.

Conclusions:

  • Familial MTLE is a clinically heterogeneous syndrome with a significant genetic component.
  • Hippocampal atrophy is prevalent in familial MTLE but its relationship with epilepsy severity appears complex, observed even in cases with benign courses.
  • Findings suggest a strong genetic predisposition for developing mesial temporal sclerosis within these families.

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