Journal Article


Gianpiero L Cavalleri
Norman Delanty
Colin P Doherty
Mary Fitzsimons
Elijah Chaila
Daniel Costello
Paul Brennan
Parameswaran M Iyer
Gabor Borgulya
Gerard Boyle
and 6 others



brain epilepsy temporal lobe patients hippocampus population traits structures heritability

Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy. (2012)

Abstract We aimed to 1) determine if subcortical volume deficits are common to mesial temporal lobe epilepsy (MTLE) patients and their unaffected siblings 2) assess the suitability of subcortical volumetric traits as endophenotypes for MTLE. MRI-based volume measurements of the hippocampus, amygdala, thalamus, caudate, putamen and pallidium were generated using an automated brain reconstruction method (FreeSurfer) for 101 unrelated 'sporadic' MTLE patients [70 with hippocampal sclerosis (MTLE+HS), 31 with MRI-negative TLE], 83 unaffected full siblings of patients and 86 healthy control subjects. Changes in the volume of subcortical structures in patients and their unaffected siblings were determined by comparison with healthy controls. Narrow sense heritability was estimated ipsilateral and contralateral to the side of seizure activity. MTLE+HS patients displayed significant volume deficits across the hippocampus, amygdala and thalamus ipsilaterally. In addition, volume loss was detected in the putamen bilaterally. These volume deficits were not present in the unaffected siblings of MTLE+HS patients. Ipsilaterally, the heritability estimates were dramatically reduced for the volume of the hippocampus, thalamus and putamen but remained in the expected range for the amygdala. MRI-negative TLE patients and their unaffected siblings showed no significant volume changes across the same structures and heritability estimates were comparable with calculations from a healthy population. The findings indicate that volume deficits for many subcortical structures in 'sporadic' MTLE+HS are not heritable and likely related to acquired factors. Therefore, they do not represent suitable endophenotypes for MTLE+HS. The findings also support the view that, at a neuroanatomical level, MTLE+HS and MRI-negative TLE represent two distinct forms of MTLE.
Collections Ireland -> Royal College of Surgeons in Ireland -> PubMed

Full list of authors on original publication

Gianpiero L Cavalleri, Norman Delanty, Colin P Doherty, Mary Fitzsimons, Elijah Chaila, Daniel Costello, Paul Brennan, Parameswaran M Iyer, Gabor Borgulya, Gerard Boyle and 6 others

Experts in our system

Gianpiero L Cavalleri
Royal College of Surgeons in Ireland
Total Publications: 35
Norman Delanty
Royal College of Surgeons in Ireland
Total Publications: 49
Colin P Doherty
Trinity College Dublin
Total Publications: 41
Paul Brennan
Dublin City University
Total Publications: 41