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King's Research Portal View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by King's Research Portal King’s Research Portal DOI: 10.1111/epi.13955 Document Version Publisher's PDF, also known as Version of record Link to publication record in King's Research Portal Citation for published version (APA): Perani, S., Tierney, T. M., Centeno, M., Shamshiri, E. A., Yaakub, S. N., O'Muircheartaigh, J., ... Richardson, M. P. (2017). Thalamic volume reduction in drug-naive patients with new-onset genetic generalized epilepsy. Epilepsia. DOI: 10.1111/epi.13955 Citing this paper Please note that where the full-text provided on King's Research Portal is the Author Accepted Manuscript or Post-Print version this may differ from the final Published version. If citing, it is advised that you check and use the publisher's definitive version for pagination, volume/issue, and date of publication details. And where the final published version is provided on the Research Portal, if citing you are again advised to check the publisher's website for any subsequent corrections. General rights Copyright and moral rights for the publications made accessible in the Research Portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognize and abide by the legal requirements associated with these rights. •Users may download and print one copy of any publication from the Research Portal for the purpose of private study or research. •You may not further distribute the material or use it for any profit-making activity or commercial gain •You may freely distribute the URL identifying the publication in the Research Portal Take down policy If you believe that this document breaches copyright please contact [email protected] providing details, and we will remove access to the work immediately and investigate your claim. Download date: 15. Dec. 2017 Accepted: 19 October 2017 DOI: 10.1111/epi.13955 FULL-LENGTH ORIGINAL RESEARCH Thalamic volume reduction in drug-naive patients with new-onset genetic generalized epilepsy Suejen Perani1,2 | Tim M Tierney2 | Maria Centeno2 | Elhum A Shamshiri2 | Siti N Yaakub1 | Jonathan O’Muircheartaigh3,4 | David W Carmichael2 | Mark P Richardson1 1Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Summary Psychology and Neuroscience, King’s Objective: Patients with genetic generalized epilepsy (GGE) have subtle morpho- College London, London, United logic abnormalities of the brain revealed with magnetic resonance imaging (MRI), Kingdom particularly in the thalamus. However, it is unclear whether morphologic abnor- 2Developmental Imaging and Biophysics Section, Developmental Neurosciences malities of the brain in GGE are a consequence of repeated seizures over the Program, UCL Great Ormond Street duration of the disease, or are a consequence of treatment with antiepileptic drugs Institute of Child Health, London, United (AEDs), or are independent of these factors. Therefore, we measured brain mor- Kingdom 3Department of Neuroimaging, Institute of phometry in a cohort of AED-naive patients with GGE at disease onset. We Psychiatry, Psychology and Neuroscience, hypothesize that drug-naive patients at disease onset have gray matter changes ’ King s College London, London, United compared to age-matched healthy controls. Kingdom Methods: We performed quantitative measures of gray matter volume in the tha- 4Centre for the Developing Brain, Division of Imaging Sciences and lamus, putamen, caudate, pallidum, hippocampus, precuneus, prefrontal cortex, Biomedical Engineering, King’s College precentral cortex, and cingulate in 29 AED-naive patients with new-onset GGE London, London, United Kingdom and compared them to 32 age-matched healthy controls. We subsequently com- Correspondence pared the shape of any brain structures found to differ in gray matter volume Mark P Richardson, Department of Basic between the groups. and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience Results: The thalamus was the only structure to show reduced gray matter volume (IoPPN), King’s College London, Maurice in AED-naive patients with new-onset GGE compared to healthy controls. Shape Wohl Clinical Neuroscience Institute, analysis revealed that the thalamus showed deflation, which was not uniformly dis- London, United Kingdom. Email: [email protected] tributed, but particularly affected a circumferential strip involving anterior, superior, posterior, and inferior regions with sparing of medial and lateral regions. Funding information Significance: Structural abnormalities in the thalamus are present at the initial Epilepsy Research UK, Grant/Award Number: PGE1402; Medical Research onset of GGE in AED-naive patients, suggesting that thalamic structural abnor- Council, Grant/Award Number: MR/ mality is an intrinsic feature of GGE and not a consequence of AEDs or disease K013998/1, MR/N026063/1; Action Medical Research, Grant/Award Number: duration. SP4646, SP4646; James Lewis Foundation (via Great Ormond Street Hospital KEYWORDS Children’s Charity),; Child Health Research drug naive, genetic generalized epilepsy, new onset, thalamus, volumetric MRI Appeal Trust; University College London; DWC and MPR made equal contributions as last author. ---------------------------------------------------------------------------------------------------------------------------------------------------------------------- This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. © 2017 The Authors. Epilepsia published by Wiley Periodicals, Inc. on behalf of International League Against Epilepsy. | Epilepsia. 2017;1–9. wileyonlinelibrary.com/journal/epi 1 2 | PERANI ET AL. UCL Overseas Research Scholarship; James Lewis Foundation; King’s College London; London Law Trust Medal Fellowship; Engineering and Physical Sciences Research Council, Grant/Award Number: EP/M00 1393/1, EP/N014391/1; NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust Key Points • 1 INTRODUCTION Brain morphology was studied in newly diag- | nosed AED-naive patients with GGE for the first time People with genetic generalized epilepsy (GGE) are expected • Bilateral thalamus was smaller in patients than in to have normal neuroimaging findings when studied with a healthy controls conventional clinical magnetic resonance imaging (MRI) • Thalamic volume loss in GGE is present at dis- scan.1,2 However, subtle abnormalities of brain morphology ease onset, independent of AEDs and repeated have frequently been reported. There are conflicting findings seizures regarding which brain regions are involved and whether the • We proposed that thalamic volume loss in GGE abnormality consists of increased or reduced volume of is a disease endophenotype particular brain regions. Gray matter atrophy in the puta- men,3,4 caudate,4 globus pallidus,3 and hippocampus5 has been identified inconsistently across studies in patients with GGE compared to healthy controls. The thalamus has shown of GGE made by an epilepsy specialist following examina- the most consistent differences, typically volume loss,3,4,6,7 in tion and investigation; (2) normal cognitive development; patients with GGE. Morphologic abnormalities of cortex, in and (3) if a child, judged by their treating clinician to be particular prefrontal, precentral, and posterior cingulate, have capable of undergoing an MRI scan without sedation. also been reported, although inconsistently.6,8–11 Exclusion criteria were the following: (1) a history of any Prior studies of brain morphology in GGE have been neurologic condition other than epilepsy; and (2) current carried out in populations of patients with a longstanding use of drugs active in the brain (prescribed medications diagnosis and on long-term antiepileptic drug (AED) treat- and drug or alcohol misuse). ment; both factors could affect brain morphology.12,13 This We studied 32 age-matched healthy controls (mean age precludes unequivocal attribution of abnormalities in brain 16.9, SD 7.3 years, range 6.6-32.0 years) to compare with the morphology to the underlying etiology. There is only one AED-naive patients with GGE (Mann-Whitney U = 383.5, previous study that reported decreased thalamic volume in P = .245). Inclusion criteria were if a child, judged to be cap- a group of drug-naive patients with GGE, in this case chil- able of undergoing MRI scan without sedation. Exclusion cri- dren with childhood absence epilepsy (CAE), although they teria were the following: (1) current use of drugs active in the were studied on average a year after the first diagnosis.14 brain (prescribed medications and drug or alcohol misuse); (2) In the work reported herein, we measured brain mor- history of any neurologic or neurodevelopmental conditions; phology at the earliest possible time point in AED-naive and (3) family history of epilepsy in any first-degree relative. patients diagnosed with GGE. We hypothesize that AED- ThestudywasapprovedbytheRiversideResearchEthics naive patients at disease onset will have differences in gray Committee (REC approval number 12/LO/2006) and by the matter volume compared to age-matched healthy controls. London-Surrey Border Research Ethics Committee for the All subjects were recruited through rapid-access first sei- acquisition of pediatric healthy controls (REC approval num- zure clinics
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