Abnormal temporal lobe morphology in asymptomatic relatives of patients with hippocampal sclerosis: A replication

Siti Nurbaya Yaakub1, Gareth J Barker2, Sarah J Carr1

  • 1Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.

Epilepsia
|October 17, 2018
PubMed

Insights

Researchers studied brain structure in mesial temporal lobe epilepsy with hippocampal sclerosis (mTLE+HS) patients and their relatives. Findings reveal inherited brain differences in relatives, suggesting a shared genetic predisposition for mTLE+HS.

Area of Science:

  • Neuroimaging
  • Epilepsy Research
  • Genetics

Background:

  • Mesial temporal lobe epilepsy with hippocampal sclerosis (mTLE+HS) is a common epilepsy syndrome.
  • Previous studies suggested structural brain abnormalities in relatives of mTLE+HS patients.
  • Replication in an independent cohort is crucial for validating these findings.

Purpose of the Study:

  • To investigate gray and white matter morphology in mTLE+HS patients and their first-degree asymptomatic relatives.
  • To replicate findings of anterior temporal lobe structural abnormalities in asymptomatic relatives.
  • To explore the potential for an inherited brain structure endophenotype in mTLE+HS.

Main Methods:

  • Whole-brain T1-weighted magnetic resonance imaging (MRI) was performed.
  • Participants included 19 mTLE+HS patients, 14 asymptomatic relatives, and 32 healthy controls.
  • Automated hippocampal volumetry and cortical surface-based morphometry were used for structural analysis.

Main Results:

  • Cortical surface area contractions were replicated in the ipsilateral anterior temporal lobe for both mTLE+HS patients and relatives compared to controls.
  • Asymptomatic relatives exhibited similar, yet less extensive, morphologic changes than patients.
  • These findings indicate a shared structural abnormality between patients and their relatives.

Conclusions:

  • Morphologic abnormalities are present in asymptomatic relatives of mTLE+HS patients.
  • These findings support the hypothesis of an inherited brain structure endophenotype in mTLE+HS.
  • This suggests a potential genetic contribution to the underlying pathophysiology of mTLE+HS.

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