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1. Down-modulation of functional ventral striatum activation for emotional face stimuli in patients with insula damage.

Author

Klepzig K, Domin M, von Sarnowski B, Lischke A, and Lotze M

Subjects
Medicine, Science
Abstract

Insula damage results in substantial impairments in facial emotion recognition. In particular, left hemispheric damage appears to be associated with poorer recognition of aversively rated facial expressions. Functional imaging can provide information on differences in the processing of these stimuli in patients with insula lesions when compared to healthy matched controls (HCs). We therefore investigated 17 patients with insula lesions in the chronic stage following stroke and 13 HCs using a passive-viewing task with pictures of facial expressions testing the blood oxygenation dependent (BOLD) effect in predefined regions of interest (ROIs). We expected a decrease in functional activation in an area modulating emotional response (left ventral striatum) but not in the facial recognition areas in the left inferior fusiform gyrus. Quantification of BOLD-response in ROIs but also voxel-based statistics confirmed this hypothesis. The voxel-based analysis demonstrated that the decrease in BOLD in the left ventral striatum was driven by left hemispheric damaged patients (n = 10). In our patient group, insula activation was strongly associated with the intensity rating of facial expressions. In conclusion, the combination of performance testing and functional imaging in patients following circumscribed brain damage is a challenging method for understanding emotion processing in the human brain.

Published
2024
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2. Pain Catastrophizing and Functional Activation During Occlusion in TMD Patients—An Interventional Study.

Author

Klepzig, K., Domin, M., Kordass, B., and Lotze, M.

Subjects
*PAIN catastrophizing, *TEMPOROMANDIBULAR disorders, *SOMATOSENSORY cortex, *ANALGESIA, *CLINICAL trials
Abstract

In temporomandibular disorder (TMD), the effects of standard interventions such as using an occlusal splint and its impact on pain relief and pain catastrophizing are poorly understood. Earlier work pointed to a crucial role of insula activation with changes in pain relief by occlusal splint treatment. We performed a functional imaging study using specially developed splint systems to allow for a placebo‐controlled longitudinal design. Using functional MRI we examined 20 TMD patients during repetitive occlusal movements at baseline and over the course of splint therapy and also collected self‐reported pain catastrophizing. For balancing performance between baseline and after intervention we used occlusion force measures in an individualized fMRI‐splint system. Splint therapy lasted for approximately 7 weeks with one group selected by randomization wearing a palatine placebo splint over the first 3 weeks (delayed start; 11 individuals). As expected, fMRI activation in areas involved in pain processing (insula, primary and secondary somatosensory cortex) decreased with intervention. At baseline a positive correlation between activation of the left anterior insula and pain catastrophizing was present. Both parameters decreased over intervention while associations were primarily observable for patients with rather mild TMD. [ABSTRACT FROM AUTHOR]

Published
2024
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13. When laughter arrests speech: fMRI-based evidence

Author

Westermann, B., primary, Lotze, M., additional, Varra, L., additional, Versteeg, N., additional, Domin, M., additional, Nicolet, L., additional, Obrist, M., additional, Klepzig, K., additional, Marbot, L., additional, Lämmler, L., additional, Fiedler, K., additional, and Wattendorf, E., additional

Published
2022
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15. Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy

Author

Park, B.-y., Larivière, S., Rodríguez-Cruces, R., Royer, J., Tavakol, S., Wang, Y., Caciagli, L., Caligiuri, M.E., Gambardella, A., Concha, L., Keller, S.S., Cendes, F., Alvim, M.K.M., Yasuda, C., Bonilha, L., Gleichgerrcht, E., Focke, N.K., Kreilkamp, B.A.K., Domin, M., Podewils, F. von, Langner, S., Rummel, C., Rebsamen, M., Wiest, R., Martin, P., Kotikalapudi, R., Bender, B., O’Brien, T.J., Law, M., Sinclair, B., Vivash, L., Kwan, P., Desmond, P.M., Malpas, C.B., Lui, E., Alhusaini, S., Doherty, C.P., Cavalleri, G.L., Delanty, N., Kälviäinen, R., Jackson, G.D., Kowalczyk, M., Mascalchi, M., Semmelroch, M., Thomas, R.H., Soltanian-Zadeh, H., Davoodi-Bojd, E., Zhang, J., Lenge, M., Guerrini, R., Bartolini, E., Hamandi, K., Foley, S., Weber, B., Depondt, C., Absil, J., Carr, S.J.A., Abela, E., Richardson, M.P., Devinsky, O., Severino, M., Striano, P., Parodi, C., Tortora, D., Hatton, S.N., Vos, S.B., Duncan, J.S., Galovic, M., Whelan, C.D., Bargalló, N., Pariente, J., Conde-Blanco, E., Vaudano, A.E., Tondelli, M., Meletti, S., Kong, X.Z., Francks, C., Fisher, S.E., Caldairou, B., Ryten, M., Labate, A., Sisodiya, S.M., Thompson, P.M., McDonald, C.R., Bernasconi, A., Bernasconi, N., Bernhardt, B.C., Park, B.-y., Larivière, S., Rodríguez-Cruces, R., Royer, J., Tavakol, S., Wang, Y., Caciagli, L., Caligiuri, M.E., Gambardella, A., Concha, L., Keller, S.S., Cendes, F., Alvim, M.K.M., Yasuda, C., Bonilha, L., Gleichgerrcht, E., Focke, N.K., Kreilkamp, B.A.K., Domin, M., Podewils, F. von, Langner, S., Rummel, C., Rebsamen, M., Wiest, R., Martin, P., Kotikalapudi, R., Bender, B., O’Brien, T.J., Law, M., Sinclair, B., Vivash, L., Kwan, P., Desmond, P.M., Malpas, C.B., Lui, E., Alhusaini, S., Doherty, C.P., Cavalleri, G.L., Delanty, N., Kälviäinen, R., Jackson, G.D., Kowalczyk, M., Mascalchi, M., Semmelroch, M., Thomas, R.H., Soltanian-Zadeh, H., Davoodi-Bojd, E., Zhang, J., Lenge, M., Guerrini, R., Bartolini, E., Hamandi, K., Foley, S., Weber, B., Depondt, C., Absil, J., Carr, S.J.A., Abela, E., Richardson, M.P., Devinsky, O., Severino, M., Striano, P., Parodi, C., Tortora, D., Hatton, S.N., Vos, S.B., Duncan, J.S., Galovic, M., Whelan, C.D., Bargalló, N., Pariente, J., Conde-Blanco, E., Vaudano, A.E., Tondelli, M., Meletti, S., Kong, X.Z., Francks, C., Fisher, S.E., Caldairou, B., Ryten, M., Labate, A., Sisodiya, S.M., Thompson, P.M., McDonald, C.R., Bernasconi, A., Bernasconi, N., and Bernhardt, B.C.

Abstract

Contains fulltext : 252489.pdf (Publisher’s version ) (Open Access)

Published
2022

16. Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy

Author

Park, B-Y, Lariviere, S, Rodriguez-Cruces, R, Royer, J, Tavakol, S, Wang, Y, Caciagli, L, Caligiuri, ME, Gambardella, A, Concha, L, Keller, SS, Cendes, F, Alvim, MKM, Yasuda, C, Bonilha, L, Gleichgerrcht, E, Focke, NK, Kreilkamp, BAK, Domin, M, von Podewils, F, Langner, S, Rummel, C, Rebsamen, M, Wiest, R, Martin, P, Kotikalapudi, R, Bender, B, O'Brien, TJ, Law, M, Sinclair, B, Vivash, L, Kwan, P, Desmond, PM, Malpas, CB, Lui, E, Alhusaini, S, Doherty, CP, Cavalleri, GL, Delanty, N, Kalviainen, R, Jackson, GD, Kowalczyk, M, Mascalchi, M, Semmelroch, M, Thomas, RH, Soltanian-Zadeh, H, Davoodi-Bojd, E, Zhang, J, Lenge, M, Guerrini, R, Bartolini, E, Hamandi, K, Foley, S, Weber, B, Depondt, C, Absil, J, Carr, SJA, Abela, E, Richardson, MP, Devinsky, O, Severino, M, Striano, P, Parodi, C, Tortora, D, Hatton, SN, Vos, SB, Duncan, JS, Galovic, M, Whelan, CD, Bargallo, N, Pariente, J, Conde-Blanco, E, Vaudano, AE, Tondelli, M, Meletti, S, Kong, X-Z, Francks, C, Fisher, SE, Caldairou, B, Ryten, M, Labate, A, Sisodiya, SM, Thompson, PM, McDonald, CR, Bernasconi, A, Bernasconi, N, Bernhardt, BC, Park, B-Y, Lariviere, S, Rodriguez-Cruces, R, Royer, J, Tavakol, S, Wang, Y, Caciagli, L, Caligiuri, ME, Gambardella, A, Concha, L, Keller, SS, Cendes, F, Alvim, MKM, Yasuda, C, Bonilha, L, Gleichgerrcht, E, Focke, NK, Kreilkamp, BAK, Domin, M, von Podewils, F, Langner, S, Rummel, C, Rebsamen, M, Wiest, R, Martin, P, Kotikalapudi, R, Bender, B, O'Brien, TJ, Law, M, Sinclair, B, Vivash, L, Kwan, P, Desmond, PM, Malpas, CB, Lui, E, Alhusaini, S, Doherty, CP, Cavalleri, GL, Delanty, N, Kalviainen, R, Jackson, GD, Kowalczyk, M, Mascalchi, M, Semmelroch, M, Thomas, RH, Soltanian-Zadeh, H, Davoodi-Bojd, E, Zhang, J, Lenge, M, Guerrini, R, Bartolini, E, Hamandi, K, Foley, S, Weber, B, Depondt, C, Absil, J, Carr, SJA, Abela, E, Richardson, MP, Devinsky, O, Severino, M, Striano, P, Parodi, C, Tortora, D, Hatton, SN, Vos, SB, Duncan, JS, Galovic, M, Whelan, CD, Bargallo, N, Pariente, J, Conde-Blanco, E, Vaudano, AE, Tondelli, M, Meletti, S, Kong, X-Z, Francks, C, Fisher, SE, Caldairou, B, Ryten, M, Labate, A, Sisodiya, SM, Thompson, PM, McDonald, CR, Bernasconi, A, Bernasconi, N, and Bernhardt, BC

Abstract

Temporal lobe epilepsy, a common drug-resistant epilepsy in adults, is primarily a limbic network disorder associated with predominant unilateral hippocampal pathology. Structural MRI has provided an in vivo window into whole-brain grey matter structural alterations in temporal lobe epilepsy relative to controls, by either mapping (i) atypical inter-hemispheric asymmetry; or (ii) regional atrophy. However, similarities and differences of both atypical asymmetry and regional atrophy measures have not been systematically investigated. Here, we addressed this gap using the multisite ENIGMA-Epilepsy dataset comprising MRI brain morphological measures in 732 temporal lobe epilepsy patients and 1418 healthy controls. We compared spatial distributions of grey matter asymmetry and atrophy in temporal lobe epilepsy, contextualized their topographies relative to spatial gradients in cortical microstructure and functional connectivity calculated using 207 healthy controls obtained from Human Connectome Project and an independent dataset containing 23 temporal lobe epilepsy patients and 53 healthy controls and examined clinical associations using machine learning. We identified a marked divergence in the spatial distribution of atypical inter-hemispheric asymmetry and regional atrophy mapping. The former revealed a temporo-limbic disease signature while the latter showed diffuse and bilateral patterns. Our findings were robust across individual sites and patients. Cortical atrophy was significantly correlated with disease duration and age at seizure onset, while degrees of asymmetry did not show a significant relationship to these clinical variables. Our findings highlight that the mapping of atypical inter-hemispheric asymmetry and regional atrophy tap into two complementary aspects of temporal lobe epilepsy-related pathology, with the former revealing primary substrates in ipsilateral limbic circuits and the latter capturing bilateral disease effects. These findings refine ou

Published
2022

17. A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies

Author

Altmann, A, Ryten, M, Di Nunzio, M, Ravizza, T, Tolomeo, D, Reynolds, RH, Somani, A, Bacigaluppi, M, Iori, V, Micotti, E, Di Sapia, R, Cerovic, M, Palma, E, Ruffolo, G, Botia, JA, Absil, J, Alhusaini, S, Alvim, MKM, Auvinen, P, Bargallo, N, Bartolini, E, Bender, B, Bergo, FPG, Bernardes, T, Bernasconi, A, Bernasconi, N, Bernhardt, BC, Blackmon, K, Braga, B, Caligiuri, ME, Calvo, A, Carlson, C, Carr, SJA, Cavalleri, GL, Cendes, F, Chen, J, Chen, S, Cherubini, A, Concha, L, David, P, Delanty, N, Depondt, C, Devinsky, O, Doherty, CP, Domin, M, Focke, NK, Foley, S, Franca, W, Gambardella, A, Guerrini, R, Hamandi, K, Hibar, DP, Isaev, D, Jackson, GD, Jahanshad, N, Kalviainen, R, Keller, SS, Kochunov, P, Kotikalapudi, R, Kowalczyk, MA, Kuzniecky, R, Kwan, P, Labate, A, Langner, S, Lenge, M, Liu, M, Martin, P, Mascalchi, M, Meletti, S, Morita-Sherman, ME, O'Brien, TJ, Pariente, JC, Richardson, MP, Rodriguez-Cruces, R, Rummel, C, Saavalainen, T, Semmelroch, MK, Severino, M, Striano, P, Thesen, T, Thomas, RH, Tondelli, M, Tortora, D, Vaudano, AE, Vivash, L, Podewils, F, Wagner, J, Weber, B, Wiest, R, Yasuda, CL, Zhang, G, Zhang, J, Leu, C, Avbersek, A, Thom, M, Whelan, CD, Thompson, P, McDonald, CR, Vezzani, A, Sisodiya, SM, Altmann, A, Ryten, M, Di Nunzio, M, Ravizza, T, Tolomeo, D, Reynolds, RH, Somani, A, Bacigaluppi, M, Iori, V, Micotti, E, Di Sapia, R, Cerovic, M, Palma, E, Ruffolo, G, Botia, JA, Absil, J, Alhusaini, S, Alvim, MKM, Auvinen, P, Bargallo, N, Bartolini, E, Bender, B, Bergo, FPG, Bernardes, T, Bernasconi, A, Bernasconi, N, Bernhardt, BC, Blackmon, K, Braga, B, Caligiuri, ME, Calvo, A, Carlson, C, Carr, SJA, Cavalleri, GL, Cendes, F, Chen, J, Chen, S, Cherubini, A, Concha, L, David, P, Delanty, N, Depondt, C, Devinsky, O, Doherty, CP, Domin, M, Focke, NK, Foley, S, Franca, W, Gambardella, A, Guerrini, R, Hamandi, K, Hibar, DP, Isaev, D, Jackson, GD, Jahanshad, N, Kalviainen, R, Keller, SS, Kochunov, P, Kotikalapudi, R, Kowalczyk, MA, Kuzniecky, R, Kwan, P, Labate, A, Langner, S, Lenge, M, Liu, M, Martin, P, Mascalchi, M, Meletti, S, Morita-Sherman, ME, O'Brien, TJ, Pariente, JC, Richardson, MP, Rodriguez-Cruces, R, Rummel, C, Saavalainen, T, Semmelroch, MK, Severino, M, Striano, P, Thesen, T, Thomas, RH, Tondelli, M, Tortora, D, Vaudano, AE, Vivash, L, Podewils, F, Wagner, J, Weber, B, Wiest, R, Yasuda, CL, Zhang, G, Zhang, J, Leu, C, Avbersek, A, Thom, M, Whelan, CD, Thompson, P, McDonald, CR, Vezzani, A, and Sisodiya, SM

Abstract

AIMS: The causes of distinct patterns of reduced cortical thickness in the common human epilepsies, detectable on neuroimaging and with important clinical consequences, are unknown. We investigated the underlying mechanisms of cortical thinning using a systems-level analysis. METHODS: Imaging-based cortical structural maps from a large-scale epilepsy neuroimaging study were overlaid with highly spatially resolved human brain gene expression data from the Allen Human Brain Atlas. Cell-type deconvolution, differential expression analysis and cell-type enrichment analyses were used to identify differences in cell-type distribution. These differences were followed up in post-mortem brain tissue from humans with epilepsy using Iba1 immunolabelling. Furthermore, to investigate a causal effect in cortical thinning, cell-type-specific depletion was used in a murine model of acquired epilepsy. RESULTS: We identified elevated fractions of microglia and endothelial cells in regions of reduced cortical thickness. Differentially expressed genes showed enrichment for microglial markers and, in particular, activated microglial states. Analysis of post-mortem brain tissue from humans with epilepsy confirmed excess activated microglia. In the murine model, transient depletion of activated microglia during the early phase of the disease development prevented cortical thinning and neuronal cell loss in the temporal cortex. Although the development of chronic seizures was unaffected, the epileptic mice with early depletion of activated microglia did not develop deficits in a non-spatial memory test seen in epileptic mice not depleted of microglia. CONCLUSIONS: These convergent data strongly implicate activated microglia in cortical thinning, representing a new dimension for concern and disease modification in the epilepsies, potentially distinct from seizure control.

Published
2022

18. The ENIGMA-Epilepsy working group: Mapping disease from large data sets

Author

Sisodiya, SM, Whelan, CD, Hatton, SN, Huynh, K, Altmann, A, Ryten, M, Vezzani, A, Caligiuri, ME, Labate, A, Gambardella, A, Ives-Deliperi, V, Meletti, S, Munsell, BC, Bonilha, L, Tondelli, M, Rebsamen, M, Rummel, C, Vaudano, AE, Wiest, R, Balachandra, AR, Bargallo, N, Bartolini, E, Bernasconi, A, Bernasconi, N, Bernhardt, B, Caldairou, B, Carr, SJA, Cavalleri, GL, Cendes, F, Concha, L, Desmond, PM, Domin, M, Duncan, JS, Focke, NK, Guerrini, R, Hamandi, K, Jackson, GD, Jahanshad, N, Kalviainen, R, Keller, SS, Kochunov, P, Kowalczyk, MA, Kreilkamp, BAK, Kwan, P, Lariviere, S, Lenge, M, Lopez, SM, Martin, P, Mascalchi, M, Moreira, JCV, Morita-Sherman, ME, Pardoe, HR, Pariente, JC, Raviteja, K, Rocha, CS, Rodriguez-Cruces, R, Seeck, M, Semmelroch, MKHG, Sinclair, B, Soltanian-Zadeh, H, Stein, DJ, Striano, P, Taylor, PN, Thomas, RH, Thomopoulos, SI, Velakoulis, D, Vivash, L, Weber, B, Yasuda, CL, Zhang, J, Thompson, PM, McDonald, CR, Sisodiya, SM, Whelan, CD, Hatton, SN, Huynh, K, Altmann, A, Ryten, M, Vezzani, A, Caligiuri, ME, Labate, A, Gambardella, A, Ives-Deliperi, V, Meletti, S, Munsell, BC, Bonilha, L, Tondelli, M, Rebsamen, M, Rummel, C, Vaudano, AE, Wiest, R, Balachandra, AR, Bargallo, N, Bartolini, E, Bernasconi, A, Bernasconi, N, Bernhardt, B, Caldairou, B, Carr, SJA, Cavalleri, GL, Cendes, F, Concha, L, Desmond, PM, Domin, M, Duncan, JS, Focke, NK, Guerrini, R, Hamandi, K, Jackson, GD, Jahanshad, N, Kalviainen, R, Keller, SS, Kochunov, P, Kowalczyk, MA, Kreilkamp, BAK, Kwan, P, Lariviere, S, Lenge, M, Lopez, SM, Martin, P, Mascalchi, M, Moreira, JCV, Morita-Sherman, ME, Pardoe, HR, Pariente, JC, Raviteja, K, Rocha, CS, Rodriguez-Cruces, R, Seeck, M, Semmelroch, MKHG, Sinclair, B, Soltanian-Zadeh, H, Stein, DJ, Striano, P, Taylor, PN, Thomas, RH, Thomopoulos, SI, Velakoulis, D, Vivash, L, Weber, B, Yasuda, CL, Zhang, J, Thompson, PM, and McDonald, CR

Abstract

Epilepsy is a common and serious neurological disorder, with many different constituent conditions characterized by their electro clinical, imaging, and genetic features. MRI has been fundamental in advancing our understanding of brain processes in the epilepsies. Smaller-scale studies have identified many interesting imaging phenomena, with implications both for understanding pathophysiology and improving clinical care. Through the infrastructure and concepts now well-established by the ENIGMA Consortium, ENIGMA-Epilepsy was established to strengthen epilepsy neuroscience by greatly increasing sample sizes, leveraging ideas and methods established in other ENIGMA projects, and generating a body of collaborating scientists and clinicians to drive forward robust research. Here we review published, current, and future projects, that include structural MRI, diffusion tensor imaging (DTI), and resting state functional MRI (rsfMRI), and that employ advanced methods including structural covariance, and event-based modeling analysis. We explore age of onset- and duration-related features, as well as phenomena-specific work focusing on particular epilepsy syndromes or phenotypes, multimodal analyses focused on understanding the biology of disease progression, and deep learning approaches. We encourage groups who may be interested in participating to make contact to further grow and develop ENIGMA-Epilepsy.

Published
2022

19. A large, curated, open-source stroke neuroimaging dataset to improve lesion segmentation algorithms

Author

Liew, S-L, Lo, BP, Donnelly, MR, Zavaliangos-Petropulu, A, Jeong, JN, Barisano, G, Hutton, A, Simon, JP, Juliano, JM, Suri, A, Wang, Z, Abdullah, A, Kim, J, Ard, T, Banaj, N, Borich, MR, Boyd, LA, Brodtmann, A, Buetefisch, CM, Cao, L, Cassidy, JM, Ciullo, V, Conforto, AB, Cramer, SC, Dacosta-Aguayo, R, de la Rosa, E, Domin, M, Dula, AN, Feng, W, Franco, AR, Geranmayeh, F, Gramfort, A, Gregory, CM, Hanlon, CA, Hordacre, BG, Kautz, SA, Khlif, MS, Kim, H, Kirschke, JS, Liu, J, Lotze, M, MacIntosh, BJ, Mataro, M, Mohamed, FB, Nordvik, JE, Park, G, Pienta, A, Piras, F, Redman, SM, Revill, KP, Reyes, M, Robertson, AD, Seo, NJ, Soekadar, SR, Spalletta, G, Sweet, A, Telenczuk, M, Thielman, G, Westlye, LT, Winstein, CJ, Wittenberg, GF, Wong, KA, Yu, C, Liew, S-L, Lo, BP, Donnelly, MR, Zavaliangos-Petropulu, A, Jeong, JN, Barisano, G, Hutton, A, Simon, JP, Juliano, JM, Suri, A, Wang, Z, Abdullah, A, Kim, J, Ard, T, Banaj, N, Borich, MR, Boyd, LA, Brodtmann, A, Buetefisch, CM, Cao, L, Cassidy, JM, Ciullo, V, Conforto, AB, Cramer, SC, Dacosta-Aguayo, R, de la Rosa, E, Domin, M, Dula, AN, Feng, W, Franco, AR, Geranmayeh, F, Gramfort, A, Gregory, CM, Hanlon, CA, Hordacre, BG, Kautz, SA, Khlif, MS, Kim, H, Kirschke, JS, Liu, J, Lotze, M, MacIntosh, BJ, Mataro, M, Mohamed, FB, Nordvik, JE, Park, G, Pienta, A, Piras, F, Redman, SM, Revill, KP, Reyes, M, Robertson, AD, Seo, NJ, Soekadar, SR, Spalletta, G, Sweet, A, Telenczuk, M, Thielman, G, Westlye, LT, Winstein, CJ, Wittenberg, GF, Wong, KA, and Yu, C

Abstract

Accurate lesion segmentation is critical in stroke rehabilitation research for the quantification of lesion burden and accurate image processing. Current automated lesion segmentation methods for T1-weighted (T1w) MRIs, commonly used in stroke research, lack accuracy and reliability. Manual segmentation remains the gold standard, but it is time-consuming, subjective, and requires neuroanatomical expertise. We previously released an open-source dataset of stroke T1w MRIs and manually-segmented lesion masks (ATLAS v1.2, N = 304) to encourage the development of better algorithms. However, many methods developed with ATLAS v1.2 report low accuracy, are not publicly accessible or are improperly validated, limiting their utility to the field. Here we present ATLAS v2.0 (N = 1271), a larger dataset of T1w MRIs and manually segmented lesion masks that includes training (n = 655), test (hidden masks, n = 300), and generalizability (hidden MRIs and masks, n = 316) datasets. Algorithm development using this larger sample should lead to more robust solutions; the hidden datasets allow for unbiased performance evaluation via segmentation challenges. We anticipate that ATLAS v2.0 will lead to improved algorithms, facilitating large-scale stroke research.

Published
2022

20. Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression

Author

Lariviere, S, Royer, J, Rodriguez-Cruces, R, Paquola, C, Caligiuri, ME, Gambardella, A, Concha, L, Keller, SS, Cendes, F, Yasuda, CL, Bonilha, L, Gleichgerrcht, E, Focke, NK, Domin, M, von Podewills, F, Langner, S, Rummel, C, Wiest, R, Martin, P, Kotikalapudi, R, O'Brien, TJ, Sinclair, B, Vivash, L, Desmond, PM, Lui, E, Vaudano, AE, Meletti, S, Tondelli, M, Alhusaini, S, Doherty, CP, Cavalleri, GL, Delanty, N, Kalviainen, R, Jackson, GD, Kowalczyk, M, Mascalchi, M, Semmelroch, M, Thomas, RH, Soltanian-Zadeh, H, Davoodi-Bojd, E, Zhang, J, Winston, GP, Griffin, A, Singh, A, Tiwari, VK, Kreilkamp, BAK, Lenge, M, Guerrini, R, Hamandi, K, Foley, S, Ruber, T, Weber, B, Depondt, C, Absil, J, Carr, SJA, Abela, E, Richardson, MP, Devinsky, O, Severino, M, Striano, P, Tortora, D, Kaestner, E, Hatton, SN, Vos, SB, Caciagli, L, Duncan, JS, Whelan, CD, Thompson, PM, Sisodiya, SM, Bernasconi, A, Labate, A, McDonald, CR, Bernasconi, N, Bernhardt, BC, Lariviere, S, Royer, J, Rodriguez-Cruces, R, Paquola, C, Caligiuri, ME, Gambardella, A, Concha, L, Keller, SS, Cendes, F, Yasuda, CL, Bonilha, L, Gleichgerrcht, E, Focke, NK, Domin, M, von Podewills, F, Langner, S, Rummel, C, Wiest, R, Martin, P, Kotikalapudi, R, O'Brien, TJ, Sinclair, B, Vivash, L, Desmond, PM, Lui, E, Vaudano, AE, Meletti, S, Tondelli, M, Alhusaini, S, Doherty, CP, Cavalleri, GL, Delanty, N, Kalviainen, R, Jackson, GD, Kowalczyk, M, Mascalchi, M, Semmelroch, M, Thomas, RH, Soltanian-Zadeh, H, Davoodi-Bojd, E, Zhang, J, Winston, GP, Griffin, A, Singh, A, Tiwari, VK, Kreilkamp, BAK, Lenge, M, Guerrini, R, Hamandi, K, Foley, S, Ruber, T, Weber, B, Depondt, C, Absil, J, Carr, SJA, Abela, E, Richardson, MP, Devinsky, O, Severino, M, Striano, P, Tortora, D, Kaestner, E, Hatton, SN, Vos, SB, Caciagli, L, Duncan, JS, Whelan, CD, Thompson, PM, Sisodiya, SM, Bernasconi, A, Labate, A, McDonald, CR, Bernasconi, N, and Bernhardt, BC

Abstract

Epilepsy is associated with genetic risk factors and cortico-subcortical network alterations, but associations between neurobiological mechanisms and macroscale connectomics remain unclear. This multisite ENIGMA-Epilepsy study examined whole-brain structural covariance networks in patients with epilepsy and related findings to postmortem epilepsy risk gene expression patterns. Brain network analysis included 578 adults with temporal lobe epilepsy (TLE), 288 adults with idiopathic generalized epilepsy (IGE), and 1328 healthy controls from 18 centres worldwide. Graph theoretical analysis of structural covariance networks revealed increased clustering and path length in orbitofrontal and temporal regions in TLE, suggesting a shift towards network regularization. Conversely, people with IGE showed decreased clustering and path length in fronto-temporo-parietal cortices, indicating a random network configuration. Syndrome-specific topological alterations reflected expression patterns of risk genes for hippocampal sclerosis in TLE and for generalized epilepsy in IGE. These imaging-transcriptomic signatures could potentially guide diagnosis or tailor therapeutic approaches to specific epilepsy syndromes.

Published
2022

24. Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study

Author

Gleichgerrcht, E, Munsell, BC, Alhusaini, S, Alvim, MKM, Bargallo, N, Bender, B, Bernasconi, A, Bernasconi, N, Bernhardt, B, Blackmon, K, Caligiuri, ME, Cendes, F, Concha, L, Desmond, PM, Devinsky, O, Doherty, CP, Domin, M, Duncan, JS, Focke, NK, Gambardella, A, Gong, B, Guerrini, R, Hatton, SN, Kalviainen, R, Keller, SS, Kochunov, P, Kotikalapudi, R, Kreilkamp, BAK, Labate, A, Langner, S, Lariviere, S, Lenge, M, Lui, E, Martin, P, Mascalchi, M, Meletti, S, O'Brien, TJ, Pardoe, HR, Pariente, JC, Rao, JX, Richardson, MP, Rodriguez-Cruces, R, Ruber, T, Sinclair, B, Soltanian-Zadeh, H, Stein, DJ, Striano, P, Taylor, PN, Thomas, RH, Vaudano, AE, Vivash, L, von Podewills, F, Vos, SB, Weber, B, Yao, Y, Yasuda, CL, Zhang, J, Thompson, PM, Sisodiya, SM, McDonald, CR, Bonilha, L, Gleichgerrcht, E, Munsell, BC, Alhusaini, S, Alvim, MKM, Bargallo, N, Bender, B, Bernasconi, A, Bernasconi, N, Bernhardt, B, Blackmon, K, Caligiuri, ME, Cendes, F, Concha, L, Desmond, PM, Devinsky, O, Doherty, CP, Domin, M, Duncan, JS, Focke, NK, Gambardella, A, Gong, B, Guerrini, R, Hatton, SN, Kalviainen, R, Keller, SS, Kochunov, P, Kotikalapudi, R, Kreilkamp, BAK, Labate, A, Langner, S, Lariviere, S, Lenge, M, Lui, E, Martin, P, Mascalchi, M, Meletti, S, O'Brien, TJ, Pardoe, HR, Pariente, JC, Rao, JX, Richardson, MP, Rodriguez-Cruces, R, Ruber, T, Sinclair, B, Soltanian-Zadeh, H, Stein, DJ, Striano, P, Taylor, PN, Thomas, RH, Vaudano, AE, Vivash, L, von Podewills, F, Vos, SB, Weber, B, Yao, Y, Yasuda, CL, Zhang, J, Thompson, PM, Sisodiya, SM, McDonald, CR, and Bonilha, L

Abstract

Artificial intelligence has recently gained popularity across different medical fields to aid in the detection of diseases based on pathology samples or medical imaging findings. Brain magnetic resonance imaging (MRI) is a key assessment tool for patients with temporal lobe epilepsy (TLE). The role of machine learning and artificial intelligence to increase detection of brain abnormalities in TLE remains inconclusive. We used support vector machine (SV) and deep learning (DL) models based on region of interest (ROI-based) structural (n = 336) and diffusion (n = 863) brain MRI data from patients with TLE with ("lesional") and without ("non-lesional") radiographic features suggestive of underlying hippocampal sclerosis from the multinational (multi-center) ENIGMA-Epilepsy consortium. Our data showed that models to identify TLE performed better or similar (68-75%) compared to models to lateralize the side of TLE (56-73%, except structural-based) based on diffusion data with the opposite pattern seen for structural data (67-75% to diagnose vs. 83% to lateralize). In other aspects, structural and diffusion-based models showed similar classification accuracies. Our classification models for patients with hippocampal sclerosis were more accurate (68-76%) than models that stratified non-lesional patients (53-62%). Overall, SV and DL models performed similarly with several instances in which SV mildly outperformed DL. We discuss the relative performance of these models with ROI-level data and the implications for future applications of machine learning and artificial intelligence in epilepsy care.

Published
2021

27. Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study

Author

Lariviere, S, Rodriguez-Cruces, R, Royer, J, Caligiuri, ME, Gambardella, A, Concha, L, Keller, SS, Cendes, F, Yasuda, C, Bonilha, L, Gleichgerrcht, E, Focke, NK, Domin, M, von Podewills, F, Langner, S, Rummel, C, Wiest, R, Martin, P, Kotikalapudi, R, O'Brien, TJ, Sinclair, B, Vivash, L, Desmond, PM, Alhusaini, S, Doherty, CP, Cavalleri, GL, Delanty, N, Kalviainen, R, Jackson, GD, Kowalczyk, M, Mascalchi, M, Semmelroch, M, Thomas, RH, Soltanian-Zadeh, H, Davoodi-Bojd, E, Zhang, J, Lenge, M, Guerrini, R, Bartolini, E, Hamandi, K, Foley, S, Weber, B, Depondt, C, Absil, J, Carr, SJA, Abela, E, Richardson, MP, Devinsky, O, Severino, M, Striano, P, Tortora, D, Hatton, SN, Vos, SB, Duncan, JS, Whelan, CD, Thompson, PM, Sisodiya, SM, Bernasconi, A, Labate, A, McDonald, CR, Bernasconi, N, Bernhardt, BC, Lariviere, S, Rodriguez-Cruces, R, Royer, J, Caligiuri, ME, Gambardella, A, Concha, L, Keller, SS, Cendes, F, Yasuda, C, Bonilha, L, Gleichgerrcht, E, Focke, NK, Domin, M, von Podewills, F, Langner, S, Rummel, C, Wiest, R, Martin, P, Kotikalapudi, R, O'Brien, TJ, Sinclair, B, Vivash, L, Desmond, PM, Alhusaini, S, Doherty, CP, Cavalleri, GL, Delanty, N, Kalviainen, R, Jackson, GD, Kowalczyk, M, Mascalchi, M, Semmelroch, M, Thomas, RH, Soltanian-Zadeh, H, Davoodi-Bojd, E, Zhang, J, Lenge, M, Guerrini, R, Bartolini, E, Hamandi, K, Foley, S, Weber, B, Depondt, C, Absil, J, Carr, SJA, Abela, E, Richardson, MP, Devinsky, O, Severino, M, Striano, P, Tortora, D, Hatton, SN, Vos, SB, Duncan, JS, Whelan, CD, Thompson, PM, Sisodiya, SM, Bernasconi, A, Labate, A, McDonald, CR, Bernasconi, N, and Bernhardt, BC

Abstract

Epilepsy is increasingly conceptualized as a network disorder. In this cross-sectional mega-analysis, we integrated neuroimaging and connectome analysis to identify network associations with atrophy patterns in 1021 adults with epilepsy compared to 1564 healthy controls from 19 international sites. In temporal lobe epilepsy, areas of atrophy colocalized with highly interconnected cortical hub regions, whereas idiopathic generalized epilepsy showed preferential subcortical hub involvement. These morphological abnormalities were anchored to the connectivity profiles of distinct disease epicenters, pointing to temporo-limbic cortices in temporal lobe epilepsy and fronto-central cortices in idiopathic generalized epilepsy. Negative effects of age on atrophy further revealed a strong influence of connectome architecture in temporal lobe, but not idiopathic generalized, epilepsy. Our findings were reproduced across individual sites and single patients and were robust across different analytical methods. Through worldwide collaboration in ENIGMA-Epilepsy, we provided deeper insights into the macroscale features that shape the pathophysiology of common epilepsies.

Published
2020

30. Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

Author

Whelan, Cd, Altmann, A, Botía, Ja, Jahanshad, N, Hibar, Dp, Absil, J, Alhusaini, S, Alvim, Mkm, Auvinen, P, Bartolini, E, Bergo, Fpg, Bernardes, T, Blackmon, K, Braga, B, Caligiuri, Me, Calvo, A, Carr, Sj, Chen, J, Chen, S, Cherubini, A, David, P, Domin, M, Foley, S, França, W, Haaker, G, Isaev, D, Keller, Ss, Kotikalapudi, R, Kowalczyk, Ma, Kuzniecky, R, Langner, S, Lenge, M, Leyden, Km, Liu, M, Loi, Rq, Martin, P, Mascalchi, M, Morita, Me, Pariente, Jc, Rodríguez-Cruces, R, Rummel, C, Saavalainen, T, Semmelroch, Mk, Severino, M, Thomas, Rh, Tondelli, M, Tortora, D, Vaudano, AE39, Vivash, L40, von Podewils F42, Wagner, J43, Weber, B43, Yao, Y46, Yasuda, CL7, Zhang, G47, Bargalló, N15, Bender, B26, Bernasconi, N, Bernasconi, A, Bernhardt, Bc, Blümcke, I, Carlson, C, Cavalleri, Gl, Cendes, F, Concha, L, Delanty, N, Depondt, C, Devinsky, O, Doherty, CP51, Focke, Nk, Gambardella, A, Guerrini, R, Hamandi, K, Jackson, Gd, Kälviäinen, R, Kochunov, P, Kwan, P, Labate, A, McDonald, Cr, Meletti, S, O'Brien, Tj, Ourselin, S, Richardson MP Striano, P, Thesen, T, Wiest, R, Zhang, J, Vezzani, A, Ryten, M, Thompson, Pm, and Sisodiya, Sm.

Subjects
MRI, epilepsy, precentral gyrus, thalamus
Published
2018

43. Identification of common variants associated with human hippocampal and intracranial volumes.

Author

Stein, J.L., Medland, S.E., Arias Vasquez, A., Hibar, D.P., Senstad, R.E., Winkler, A.M., Toro, R., Appel, K., Bartecek, R., Bergmann, O., Bernard, M., Brown, A.A., Cannon, D.M., Chakravarty, M.M., Christoforou, A., Domin, M., Grimm, O., Hollinshead, M., Holmes, A.J., Homuth, G., Hottenga, J.J., Langan, C., Lopez, L.M., Hansell, N.K., Hwang, K.S., Kim, S., Laje, G., Lee, P.H., Liu, X., Loth, E., Lourdusamy, A., Mattingsdal, M., Mohnke, S., Maniega, S.M., Nho, K., Nugent, A.C., O'Brien, C., Papmeyer, M., Putz, B., Ramasamy, A., Rasmussen, J., Rijpkema, M.J.P., Risacher, S.L., Roddey, J.C., Rose, E.J., Ryten, M., Shen, L., Sprooten, E., Strengman, E., Teumer, A., Trabzuni, D., Turner, J., Eijk, K. van, Erp, T.G. van, Tol, M.J. van, Wittfeld, K., Wolf, C. de, Woudstra, S., Aleman, A., Alhusaini, S., Almasy, L., Binder, E.B., Brohawn, D.G., Cantor, R.M., Carless, M.A., Corvin, A., Czisch, M., Curran, J.E., Davies, G., Almeida, M.A. de, Delanty, N., Depondt, C., Duggirala, R., Dyer, T.D., Erk, S., Fagerness, J., Fox, P.T., Freimer, N.B., Gill, M., Goring, H.H., Hagler, D.J., Hoehn, D., Holsboer, F., Hoogman, M., Hosten, N., Jahanshad, N., Johnson, M.P., Kasperaviciute, D., Kent Jr., J.W., Kochunov, P., Lancaster, J.L., Lawrie, S.M., Liewald, D.C., Mandl, R.C.W., Matarin, M., Mattheisen, M., Meisenzahl, E., Melle, I., Moses, E.K., Muhleisen, T.W., Nauck, M., Nothen, Markus, Olvera, R.L., Pandolfo, M., Pike, G.B., Puls, R., Reinvang, I., Renteria, M.E., Rietschel, M., Roffman, J.L., Royle, N.A., Rujescu, D., Savitz, J., Schnack, H.G., Schnell, K., Seiferth, N., Smith, C., Steen, V.M., Valdes Hernandez, M.C., Heuvel, M. van den, Wee, N.J.A. van der, Haren, N.E.M. van, Veltman, J.A., Volzke, H., Walker, R., Westlye, L.T., Whelan, C.D., Agartz, I., Boomsma, D.I., Cavalleri, G.L., Dale, A.M., Djurovic, S., Drevets, W.C., Hagoort, P., Hall, J., Heinz, A., Jack Jr., C.R., Foroud, T.M., Hellard, S. Le, Macciardi, F., Montgomery, G.W., Poline, J.B., Porteous, D.J., Sisodiya, S.M., Starr, J.M., Sussmann, J., Toga, A.W., Veltman, D.J., Walter, H., Weiner, M.W., Bis, J.C., Ikram, M.A., Smith, A.V., Gudnason, V., Tzourio, C., Vernooij, M.W., Launer, L.J., DeCarli, C., Seshadri, S., Andreassen, O.A., Apostolova, L.G., Bastin, M.E., Blangero, J., Brunner, H.G., Buckner, R.L., Cichon, S., Coppola, G., Zubicaray, G.I. de, Deary, I.J., Donohoe, G., Geus, E.J. de, Espeseth, T., Fernandez, G.S.E., Glahn, D.C., Grabe, H.J., Hardy, J., Hulshoff Pol, H.E., Jenkinson, M., Kahn, R.S., McDonald, C., McIntosh, A.M., McMahon, F.J., McMahon, K.L., Meyer-Lindenberg, A., Morris, D.W., Muller-Myhsok, B., Nichols, T.E., Ophoff, R.A., Paus, T., Pausova, Z., Penninx, B.W.J.H., Potkin, S.G., Samann, P.G., Saykin, A.J., Schumann, G., Smoller, J.W., Wardlaw, J.M., Weale, M.E., Martin, N.G., Franke, B., Wright, M.J., Thompson, P.M., Klaasen, A., et al., Stein, J.L., Medland, S.E., Arias Vasquez, A., Hibar, D.P., Senstad, R.E., Winkler, A.M., Toro, R., Appel, K., Bartecek, R., Bergmann, O., Bernard, M., Brown, A.A., Cannon, D.M., Chakravarty, M.M., Christoforou, A., Domin, M., Grimm, O., Hollinshead, M., Holmes, A.J., Homuth, G., Hottenga, J.J., Langan, C., Lopez, L.M., Hansell, N.K., Hwang, K.S., Kim, S., Laje, G., Lee, P.H., Liu, X., Loth, E., Lourdusamy, A., Mattingsdal, M., Mohnke, S., Maniega, S.M., Nho, K., Nugent, A.C., O'Brien, C., Papmeyer, M., Putz, B., Ramasamy, A., Rasmussen, J., Rijpkema, M.J.P., Risacher, S.L., Roddey, J.C., Rose, E.J., Ryten, M., Shen, L., Sprooten, E., Strengman, E., Teumer, A., Trabzuni, D., Turner, J., Eijk, K. van, Erp, T.G. van, Tol, M.J. van, Wittfeld, K., Wolf, C. de, Woudstra, S., Aleman, A., Alhusaini, S., Almasy, L., Binder, E.B., Brohawn, D.G., Cantor, R.M., Carless, M.A., Corvin, A., Czisch, M., Curran, J.E., Davies, G., Almeida, M.A. de, Delanty, N., Depondt, C., Duggirala, R., Dyer, T.D., Erk, S., Fagerness, J., Fox, P.T., Freimer, N.B., Gill, M., Goring, H.H., Hagler, D.J., Hoehn, D., Holsboer, F., Hoogman, M., Hosten, N., Jahanshad, N., Johnson, M.P., Kasperaviciute, D., Kent Jr., J.W., Kochunov, P., Lancaster, J.L., Lawrie, S.M., Liewald, D.C., Mandl, R.C.W., Matarin, M., Mattheisen, M., Meisenzahl, E., Melle, I., Moses, E.K., Muhleisen, T.W., Nauck, M., Nothen, Markus, Olvera, R.L., Pandolfo, M., Pike, G.B., Puls, R., Reinvang, I., Renteria, M.E., Rietschel, M., Roffman, J.L., Royle, N.A., Rujescu, D., Savitz, J., Schnack, H.G., Schnell, K., Seiferth, N., Smith, C., Steen, V.M., Valdes Hernandez, M.C., Heuvel, M. van den, Wee, N.J.A. van der, Haren, N.E.M. van, Veltman, J.A., Volzke, H., Walker, R., Westlye, L.T., Whelan, C.D., Agartz, I., Boomsma, D.I., Cavalleri, G.L., Dale, A.M., Djurovic, S., Drevets, W.C., Hagoort, P., Hall, J., Heinz, A., Jack Jr., C.R., Foroud, T.M., Hellard, S. Le, Macciardi, F., Montgomery, G.W., Poline, J.B., Porteous, D.J., Sisodiya, S.M., Starr, J.M., Sussmann, J., Toga, A.W., Veltman, D.J., Walter, H., Weiner, M.W., Bis, J.C., Ikram, M.A., Smith, A.V., Gudnason, V., Tzourio, C., Vernooij, M.W., Launer, L.J., DeCarli, C., Seshadri, S., Andreassen, O.A., Apostolova, L.G., Bastin, M.E., Blangero, J., Brunner, H.G., Buckner, R.L., Cichon, S., Coppola, G., Zubicaray, G.I. de, Deary, I.J., Donohoe, G., Geus, E.J. de, Espeseth, T., Fernandez, G.S.E., Glahn, D.C., Grabe, H.J., Hardy, J., Hulshoff Pol, H.E., Jenkinson, M., Kahn, R.S., McDonald, C., McIntosh, A.M., McMahon, F.J., McMahon, K.L., Meyer-Lindenberg, A., Morris, D.W., Muller-Myhsok, B., Nichols, T.E., Ophoff, R.A., Paus, T., Pausova, Z., Penninx, B.W.J.H., Potkin, S.G., Samann, P.G., Saykin, A.J., Schumann, G., Smoller, J.W., Wardlaw, J.M., Weale, M.E., Martin, N.G., Franke, B., Wright, M.J., Thompson, P.M., Klaasen, A., and et al.

Abstract

01 mei 2012, Contains fulltext : 108202.pdf (publisher's version ) (Closed access), Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient Alzheimer's disease and is reduced in schizophrenia, major depression and mesial temporal lobe epilepsy. Whereas many brain imaging phenotypes are highly heritable, identifying and replicating genetic influences has been difficult, as small effects and the high costs of magnetic resonance imaging (MRI) have led to underpowered studies. Here we report genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium. The intergenic variant rs7294919 was associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 x 10(-16)) and the expression levels of the positional candidate gene TESC in brain tissue. Additionally, rs10784502, located within HMGA2, was associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 x 10(-12)). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 x 10(-7)).

Published
2012

44. Identification of common variants associated with human hippocampal and intracranial volumes

Author

Stein, J., Medland, S., Vasquez, A., Hibar, D., Senstad, R., Winkler, A., Toro, R., Appel, K., Bartecek, R., Bergmann, O., Bernard, M., Brown, A., Cannon, D., Chakravarty, M., Christoforou, A., Domin, M., Grimm, O., Hollinshead, M., Holmes, A., Homuth, G., Hottenga, J., Langan, C., Lopez, L., Hansell, N., Hwang, K., Kim, S., Laje, G., Lee, P., Liu, X., Loth, E., Lourdusamy, A., Mattingsdal, M., Mohnke, S., Maniega, S., Nho, K., Nugent, A., O'Brien, C., Papmeyer, M., Putz, B., Ramasamy, A., Rasmussen, J., Rijpkema, M., Risacher, S., Roddey, J., Rose, E., Ryten, M., Shen, L., Sprooten, E., Strengman, E., Teumer, A., Trabzuni, D., Turner, J., van Eijk, K., van Erp, T., van Tol, M., Wittfeld, K., Wolf, C., Woudstra, S., Aleman, A., Alhusaini, S., Almasy, L., Binder, E., Brohawn, D., Cantor, R., Carless, M., Corvin, A., Czisch, M., Curran, J., Davies, G., de Almeida, M., Delanty, N., Depondt, C., Duggirala, R., Dyer, T., Erk, S., Fagerness, J., Fox, P., Freimer, N., Gill, M., Goering, H., Hagler, D., Hoehn, D., Holsboer, F., Hoogman, M., Hosten, N., Jahanshad, N., Johnson, M., Kasperaviciute, D., Kent, J., Kochunov, P., Lancaster, J., Lawrie, S., Liewald, D., Mandl, R., Matarin, M., Mattheisen, M., Meisenzahl, E., Melle, I., Moses, Eric, Muehleisen, T., Nauck, M., Noethen, M., Olvera, R., Pandolfo, M., Pike, G., Puls, R., Reinvang, I., Renteria, M., Rietschel, M., Roffman, J., Royle, N., Rujescu, D., Savitz, J., Schnack, H., Schnell, K., Seiferth, N., Smith, C., Steen, V., Hernandez, M., Van den Heuvel, M., van der Wee, N., Van Haren, N., Veltman, J., Voelzke, H., Walker, R., Westlye, L., Whelan, C., Agartz, I., Boomsma, D., Cavalleri, G., Dale, A., Djurovic, S., Drevets, W., Hagoort, P., Hall, J., Heinz, A., Jack, C., Foroud, T., Le Hellard, S., Macciardi, F., Montgomery, G., Poline, J., Porteous, D., Sisodiya, S., Starr, J., Sussmann, J., Toga, A., Veltman, D., Walter, H., Weiner, M., Bis, J., Ikram, M., Smith, A., Gudnason, V., Tzourio, C., Vernooij, M., Launer, L., DeCarli, C., Seshadri, S., Andreassen, O., Apostolova, L., Bastin, M., Blangero, J., Brunner, H., Buckner, R., Cichon, S., Coppola, G., de Zubicaray, G., Deary, I., Donohoe, G., de Geus, E., Espeseth, T., Fernandez, G., Glahn, D., Grabe, H., Hardy, J., Pol, H., Jenkinson, M., Kahn, R., McDonald, C., McIntosh, A., McMahon, F., McMahon, K., Meyer-Lindenberg, A., Morris, D., Mueller-Myhsok, B., Nichols, T., Ophoff, R., Paus, T., Pausova, Z., Penninx, B., Potkin, S., Saemann, P., Saykin, A., Schumann, G., Smoller, J., Wardlaw, J., Weale, M., Martin, N., Franke, B., Wright, M., Thompson, P., Stein, J., Medland, S., Vasquez, A., Hibar, D., Senstad, R., Winkler, A., Toro, R., Appel, K., Bartecek, R., Bergmann, O., Bernard, M., Brown, A., Cannon, D., Chakravarty, M., Christoforou, A., Domin, M., Grimm, O., Hollinshead, M., Holmes, A., Homuth, G., Hottenga, J., Langan, C., Lopez, L., Hansell, N., Hwang, K., Kim, S., Laje, G., Lee, P., Liu, X., Loth, E., Lourdusamy, A., Mattingsdal, M., Mohnke, S., Maniega, S., Nho, K., Nugent, A., O'Brien, C., Papmeyer, M., Putz, B., Ramasamy, A., Rasmussen, J., Rijpkema, M., Risacher, S., Roddey, J., Rose, E., Ryten, M., Shen, L., Sprooten, E., Strengman, E., Teumer, A., Trabzuni, D., Turner, J., van Eijk, K., van Erp, T., van Tol, M., Wittfeld, K., Wolf, C., Woudstra, S., Aleman, A., Alhusaini, S., Almasy, L., Binder, E., Brohawn, D., Cantor, R., Carless, M., Corvin, A., Czisch, M., Curran, J., Davies, G., de Almeida, M., Delanty, N., Depondt, C., Duggirala, R., Dyer, T., Erk, S., Fagerness, J., Fox, P., Freimer, N., Gill, M., Goering, H., Hagler, D., Hoehn, D., Holsboer, F., Hoogman, M., Hosten, N., Jahanshad, N., Johnson, M., Kasperaviciute, D., Kent, J., Kochunov, P., Lancaster, J., Lawrie, S., Liewald, D., Mandl, R., Matarin, M., Mattheisen, M., Meisenzahl, E., Melle, I., Moses, Eric, Muehleisen, T., Nauck, M., Noethen, M., Olvera, R., Pandolfo, M., Pike, G., Puls, R., Reinvang, I., Renteria, M., Rietschel, M., Roffman, J., Royle, N., Rujescu, D., Savitz, J., Schnack, H., Schnell, K., Seiferth, N., Smith, C., Steen, V., Hernandez, M., Van den Heuvel, M., van der Wee, N., Van Haren, N., Veltman, J., Voelzke, H., Walker, R., Westlye, L., Whelan, C., Agartz, I., Boomsma, D., Cavalleri, G., Dale, A., Djurovic, S., Drevets, W., Hagoort, P., Hall, J., Heinz, A., Jack, C., Foroud, T., Le Hellard, S., Macciardi, F., Montgomery, G., Poline, J., Porteous, D., Sisodiya, S., Starr, J., Sussmann, J., Toga, A., Veltman, D., Walter, H., Weiner, M., Bis, J., Ikram, M., Smith, A., Gudnason, V., Tzourio, C., Vernooij, M., Launer, L., DeCarli, C., Seshadri, S., Andreassen, O., Apostolova, L., Bastin, M., Blangero, J., Brunner, H., Buckner, R., Cichon, S., Coppola, G., de Zubicaray, G., Deary, I., Donohoe, G., de Geus, E., Espeseth, T., Fernandez, G., Glahn, D., Grabe, H., Hardy, J., Pol, H., Jenkinson, M., Kahn, R., McDonald, C., McIntosh, A., McMahon, F., McMahon, K., Meyer-Lindenberg, A., Morris, D., Mueller-Myhsok, B., Nichols, T., Ophoff, R., Paus, T., Pausova, Z., Penninx, B., Potkin, S., Saemann, P., Saykin, A., Schumann, G., Smoller, J., Wardlaw, J., Weale, M., Martin, N., Franke, B., Wright, M., and Thompson, P.

Abstract

Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient Alzheimer's disease and is reduced in schizophrenia, major depression and mesial temporal lobe epilepsy. Whereas many brain imaging phenotypes are highly heritable, identifying and replicating genetic influences has been difficult, as small effects and the high costs of magnetic resonance imaging (MRI) have led to underpowered studies. Here we report genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium. The intergenic variant rs7294919 was associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 × 10 -16) and the expression levels of the positional candidate gene TESC in brain tissue. Additionally, rs10784502, located within HMGA2, was associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 × 10 -12). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 × 10 -7). © 2012 Nature America, Inc. All rights reserved.

Published
2012

50. Diffusion tensor imaging abnormalities in photosensitive juvenile myoclonic epilepsy.

Author

Podewils, F., Runge, U., Krüger, S., Geithner, J., Wang, Z. I., Khaw, A. V., Angermaier, A., Gaida, B., Domin, M., Kessler, C., and Langner, S.

Subjects
JUVENILE diseases, INFANTILE spasms, EPILEPSY, DIFFUSION tensor imaging, NEUROLOGY
Abstract

Background and purpose Multiple structural white matter abnormalities have been described in patients with juvenile myoclonic epilepsy ( JME). In the present study, the question of whether microstructural variations exist between the two subgroups of JME, with and without photoparoxysmal responses ( PPR positive and negative), was addressed using diffusion tensor imaging. Methods A selection of 18 patients (eight PPR positive) from a tertiary epilepsy center diagnosed with JME and 27 healthy controls was studied. The following regions of interest were investigated: the ascending reticular activating system, lateral geniculate nucleus, genu of the internal capsule, ventromedial thalamus and inferior cerebellar peduncle. Results Widespread white matter microstructural abnormalities in JME and in particular in PPR positive cases were identified. PPR positive patients demonstrated increased fractional anisotropy in the ascending reticular activating system and ventromedial thalamus compared to PPR negative patients and healthy controls. Reduced fractional anisotropy of the lateral geniculate nucleus was observed in the entire JME group compared to healthy controls. Conclusions Several microstructural variations between PPR positive and negative JME patients have been identified. Our findings highlight the pivotal role of the thalamus in the pathophysiology of primary generalized seizures and suggest that thalamo-premotor connections are both an essential part of epileptic networks and important in the pathogenesis of photosensitivity. [ABSTRACT FROM AUTHOR]

Published
2015
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