Morphological and Molecular Characterization of Focal Cortical Dysplasias

Abstract

Event Abstract Back to Event Morphological and Molecular Characterization of Focal Cortical Dysplasias Catharina Donkels1*, Susanne Fauser2, Dietmar Pfeifer3, Josef Zentner4 and Carola A. Haas5 1 University of Freiburg, Experimental Epilepsy Research, Germany 2 University of Freiburg, Epilepsy Center, Germany 3 University of Freiburg, Department of Hematology & Oncology, Germany 4 University of Freiburg, Department of Neurosurgery, Germany 5 University of Freiburg, Experimental Epilepsy Research, Germany Focal cortical dysplasias (FCD) are malformations of the human neocortex which are highly associated with intractable epilepsy, especially in young children. The neuropathological characteristics of FCD extend from mild laminar disorganization and hypertrophic neurons (FCD type I) to severely developed laminar disorders with the appearance of dysmorphic neurons and cytomegalic cells (FCD type II) (Palmini et al. 2004). It is assumed that FCD arise due to local disturbances during prenatal development. To date very little is known about structural and molecular composition of these cortical malformations and to which extent they differ from normally developed neocortex. To address this question we used a combined morphological and molecular approach to analyze human resected FCD (type I and II) specimens from different cortical areas, obtained from patients with pharmaco-resistant epilepsy. In each FCD sample the degree of dyslamination was visualized by immunolabeling for NeuN and non-phosphorylated neurofilament H (SMI32), a marker for pyramidal cell layers 3 and 5, and, in parallel, the expression of genes encoding markers of laminar fate (e.g. reelin, Er81, Rorß, TLE4) , interneurons and cell maturity (e.g. doublecortin) was analyzed by real time RT-PCR. In addition we performed expression microarray analysis from FCD IB type temporal lobe neocortex. We found that in all specimens lamination was basically preserved, but there were strong differences with respect to lamina width, in some cases layers were even blurred. In addition, RT-PCR analysis revealed that laminar fate and interneuron markers were basically expressed, but with high variability mirroring the morphological observations. Our expression array results show low effect sizes concerning expression level differences in FCD specimens in comparison to control tumor access tissue due to the heterogeneous FCD tissue type. Furthermore we also could confirm our PCR and morphological results regarding to various expression levels for single gene/markers even among the FCD and especially the control group. Taken together, our data indicate that FCD show not a homogenous disease pattern but a much more complex one than initially assumed. Acknowledgements Supported by the Deutsche Forschungsgemeinschaft (DFG FA 775/2-1) References Palmini A, Naijm I, Avanzini G, Babb T, Guerrini R, Foldvary-Schaefer N, Jackson G, Lüders HO, Prayson R, Spreafico R, Vinters HV. Terminology and classification of the cortical dysplasia. Neurology 2004; 62: S2-S8. Keywords: brain disease, Epilepsy, Gene Expression, intervention, Neocortex, network dysfunction Conference: BC11 : Computational Neuroscience & Neurotechnology Bernstein Conference & Neurex Annual Meeting 2011, Freiburg, Germany, 4 Oct - 6 Oct, 2011. Presentation Type: Poster Topic: brain disease, network dysfunction and intervention (please use "brain disease, network dysfunction and intervention" as keyword) Citation: Donkels C, Fauser S, Pfeifer D, Zentner J and Haas CA (2011). Morphological and Molecular Characterization of Focal Cortical Dysplasias. Front. Comput. Neurosci. Conference Abstract: BC11 : Computational Neuroscience & Neurotechnology Bernstein Conference & Neurex Annual Meeting 2011. doi: 10.3389/conf.fncom.2011.53.00178 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 22 Aug 2011; Published Online: 04 Oct 2011. * Correspondence: Ms. Catharina Donkels, University of Freiburg, Experimental Epilepsy Research, Freiburg, Germany, catharina.donkels@uniklinik-freiburg.de Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Catharina Donkels Susanne Fauser Dietmar Pfeifer Josef Zentner Carola A Haas Google Catharina Donkels Susanne Fauser Dietmar Pfeifer Josef Zentner Carola A Haas Google Scholar Catharina Donkels Susanne Fauser Dietmar Pfeifer Josef Zentner Carola A Haas PubMed Catharina Donkels Susanne Fauser Dietmar Pfeifer Josef Zentner Carola A Haas Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.