title: MRI-based brain structure volumes in temporal lobe epilepsy patients and their unaffected siblings: a preliminary study.
abstract: BACKGROUND
  Investigating the heritability of brain structure may be useful in simplifying complicated genetic studies in temporal lobe epilepsy (TLE). A preliminary study is presented to determine if volume deficits of candidate brain structures present at a higher rate in unaffected siblings than controls subjects.
  
  
  METHODS
  T1-weighted MR images was acquired for 28 TLE patients, a same-sex unaffected sibling of 12 of these and 28 normal controls. Selected brain structure volumes were measured using an automated whole brain segmentation technique. Candidate brain structure endophenotypes were determined and group differences were investigated between (1) controls and patients and (2) controls and siblings. ICC's were used to measure the quantitative volumetric association within each sibling pair.
  
  
  RESULTS
  TLE patients demonstrated a significantly lower cerebral white matter, bilateral hippocampus, thalamus, and left entorhinal cortex volumes when compared with controls. A significant deficit in cerebral white matter (CWM) was common to patient and nonaffected siblings when compared with controls. Furthermore, a significant correlation was revealed between patients and siblings in CWM and bilateral thalamus.
  
  
  CONCLUSIONS
  The findings suggest an overlap in the neurodevelopmental genes responsible for both brain structure and the expression of the disease. Further work is ongoing to confirm these findings.
authors.affiliation: Brain Morphometry Laboratory, Epilepsy Programme, Beaumont Hospital, Dublin, Ireland.
authors.forename: Cathy
authors.initials: C
authors.lastname: Scanlon
authors.forename: Lisa
authors.initials: L
authors.lastname: Ronan
authors.forename: Colin P
authors.initials: CP
authors.lastname: Doherty
authors.forename: Gianpiero L
authors.initials: GL
authors.lastname: Cavalleri
authors.forename: Sandya
authors.initials: S
authors.lastname: Tirupati
authors.forename: Saud
authors.initials: S
authors.lastname: Alhusaini
authors.forename: Sinead
authors.initials: S
authors.lastname: Maguire
authors.forename: Norman
authors.initials: N
authors.lastname: Delanty
authors.forename: Parameswaran M
authors.initials: PM
authors.lastname: Iyer
authors.forename: Elijah
authors.initials: E
authors.lastname: Chaila
authors.forename: Mary
authors.initials: M
authors.lastname: Fitzsimons
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D004833:Epilepsy, Temporal Lobe / Q000235:genetics* / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007090:Image Interpretation, Computer-Assisted / Q000379:methods; D021621:Imaging, Three-Dimensional / Q000379:methods*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009929:Organ Size; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D035781:Siblings