Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy.
OBJECTIVES: 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. METHODS: MRI-based volume measurements of the hippocamp...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC3633933?pdf=render |
| _version_ | 1811216767319539712 |
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| author | Saud Alhusaini Cathy Scanlon Lisa Ronan Sinead Maguire James F Meaney Andrew J Fagan Gerard Boyle Gabor Borgulya Parameswaran M Iyer Paul Brennan Daniel Costello Elijah Chaila Mary Fitzsimons Colin P Doherty Norman Delanty Gianpiero L Cavalleri |
| author_facet | Saud Alhusaini Cathy Scanlon Lisa Ronan Sinead Maguire James F Meaney Andrew J Fagan Gerard Boyle Gabor Borgulya Parameswaran M Iyer Paul Brennan Daniel Costello Elijah Chaila Mary Fitzsimons Colin P Doherty Norman Delanty Gianpiero L Cavalleri |
| author_sort | Saud Alhusaini |
| collection | DOAJ |
| description | OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. |
| first_indexed | 2024-04-12T06:43:50Z |
| format | Article |
| id | doaj.art-8ba59007f2d74bec90235aab84df9ed3 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-12T06:43:50Z |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-8ba59007f2d74bec90235aab84df9ed32022-12-22T03:43:38ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0184e6188010.1371/journal.pone.0061880Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy.Saud AlhusainiCathy ScanlonLisa RonanSinead MaguireJames F MeaneyAndrew J FaganGerard BoyleGabor BorgulyaParameswaran M IyerPaul BrennanDaniel CostelloElijah ChailaMary FitzsimonsColin P DohertyNorman DelantyGianpiero L CavalleriOBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.http://europepmc.org/articles/PMC3633933?pdf=render |
| spellingShingle | Saud Alhusaini Cathy Scanlon Lisa Ronan Sinead Maguire James F Meaney Andrew J Fagan Gerard Boyle Gabor Borgulya Parameswaran M Iyer Paul Brennan Daniel Costello Elijah Chaila Mary Fitzsimons Colin P Doherty Norman Delanty Gianpiero L Cavalleri Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy. PLoS ONE |
| title | Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy. |
| title_full | Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy. |
| title_fullStr | Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy. |
| title_full_unstemmed | Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy. |
| title_short | Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy. |
| title_sort | heritability of subcortical volumetric traits in mesial temporal lobe epilepsy |
| url | http://europepmc.org/articles/PMC3633933?pdf=render |
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