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3. The ENIGMA‐Epilepsy working group: Mapping disease from large data sets

Author

Sisodiya, Sanjay M, Whelan, Christopher D, Hatton, Sean N, Huynh, Khoa, Altmann, Andre, Ryten, Mina, Vezzani, Annamaria, Caligiuri, Maria Eugenia, Labate, Angelo, Gambardella, Antonio, Ives‐Deliperi, Victoria, Meletti, Stefano, Munsell, Brent C, Bonilha, Leonardo, Tondelli, Manuela, Rebsamen, Michael, Rummel, Christian, Vaudano, Anna Elisabetta, Wiest, Roland, Balachandra, Akshara R, Bargalló, Núria, Bartolini, Emanuele, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris, Caldairou, Benoit, Carr, Sarah JA, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Desmond, Patricia M, Domin, Martin, Duncan, John S, Focke, Niels K, Guerrini, Renzo, Hamandi, Khalid, Jackson, Graeme D, Jahanshad, Neda, Kälviäinen, Reetta, Keller, Simon S, Kochunov, Peter, Kowalczyk, Magdalena A, Kreilkamp, Barbara AK, Kwan, Patrick, Lariviere, Sara, Lenge, Matteo, Lopez, Seymour M, Martin, Pascal, Mascalchi, Mario, Moreira, José CV, Morita‐Sherman, Marcia E, Pardoe, Heath R, Pariente, Jose C, Raviteja, Kotikalapudi, Rocha, Cristiane S, Rodríguez‐Cruces, Raúl, Seeck, Margitta, Semmelroch, Mira KHG, Sinclair, Benjamin, Soltanian‐Zadeh, Hamid, Stein, Dan J, Striano, Pasquale, Taylor, Peter N, Thomas, Rhys H, Thomopoulos, Sophia I, Velakoulis, Dennis, Vivash, Lucy, Weber, Bernd, Yasuda, Clarissa Lin, Zhang, Junsong, Thompson, Paul M, McDonald, Carrie R, Abela, Eugenio, Absil, Julie, Adams, Sophia, Alhusaini, Saud, Alvim, Marina, Balestrini, Simona, Bender, Benjamin, Bergo, Felipe, Bernardes, Tauana, Calvo, Anna, Carreno, Mar, Cherubini, Andrea, David, Philippe, Davoodi‐Bojd, Esmaeil, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin, França, Wendy Caroline, Franceschet, Leticia, Hibar, Derrek P, Ishikawa, Akari, Kaestner, Erik, Langner, Soenke, Liu, Min, Mirandola, Laura, Naylor, Jillian, and Nazem‐Zadeh, Mohammad‐reza

Subjects
Brain Disorders, Biomedical Imaging, Neurosciences, Epilepsy, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, covariance, deep learning, DTI, event-based modeling, gene expression, genetics, imaging, MRI, quantitative, rsfMRI, ENIGMA Consortium Epilepsy Working Group, Cognitive Sciences, Experimental Psychology
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

5. Neuropsychological function in psychosis of epilepsy

Author

Allebone, James, Kanaan, Richard A., Rayner, Genevieve, Maller, Jerome, O’Brien, Terence J., Mullen, Saul A., Cook, Mark, Adams, Sophia J., Vogrin, Simon, Vaughan, David N., Kwan, Patrick, Berkovic, Samuel F., D’Souza, Wendyl J., Jackson, Graeme, Velakoulis, Dennis, and Wilson, Sarah J.

Published
2023
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9. White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

Author

Hatton, Sean N, Huynh, Khoa H, Bonilha, Leonardo, Abela, Eugenio, Alhusaini, Saud, Altmann, Andre, Alvim, Marina KM, Balachandra, Akshara R, Bartolini, Emanuele, Bender, Benjamin, Bernasconi, Neda, Bernasconi, Andrea, Bernhardt, Boris, Bargallo, Núria, Caldairou, Benoit, Caligiuri, Maria E, Carr, Sarah JA, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Davoodi-bojd, Esmaeil, Desmond, Patricia M, Devinsky, Orrin, Doherty, Colin P, Domin, Martin, Duncan, John S, Focke, Niels K, Foley, Sonya F, Gambardella, Antonio, Gleichgerrcht, Ezequiel, Guerrini, Renzo, Hamandi, Khalid, Ishikawa, Akari, Keller, Simon S, Kochunov, Peter V, Kotikalapudi, Raviteja, Kreilkamp, Barbara AK, Kwan, Patrick, Labate, Angelo, Langner, Soenke, Lenge, Matteo, Liu, Min, Lui, Elaine, Martin, Pascal, Mascalchi, Mario, Moreira, José CV, Morita-Sherman, Marcia E, O’Brien, Terence J, Pardoe, Heath R, Pariente, José C, Ribeiro, Letícia F, Richardson, Mark P, Rocha, Cristiane S, Rodríguez-Cruces, Raúl, Rosenow, Felix, Severino, Mariasavina, Sinclair, Benjamin, Soltanian-Zadeh, Hamid, Striano, Pasquale, Taylor, Peter N, Thomas, Rhys H, Tortora, Domenico, Velakoulis, Dennis, Vezzani, Annamaria, Vivash, Lucy, von Podewils, Felix, Vos, Sjoerd B, Weber, Bernd, Winston, Gavin P, Yasuda, Clarissa L, Zhu, Alyssa H, Thompson, Paul M, Whelan, Christopher D, Jahanshad, Neda, Sisodiya, Sanjay M, and McDonald, Carrie R

Subjects
Genetics, Neurodegenerative, Epilepsy, Clinical Research, Brain Disorders, Neurosciences, Biomedical Imaging, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Brain, Diffusion Magnetic Resonance Imaging, Epileptic Syndromes, Female, Humans, Image Interpretation, Computer-Assisted, Male, Middle Aged, White Matter, epilepsy, diffusion tensor imaging, multisite analysis, white matter, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

The epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitative brain imaging consortium, aggregating data to investigate patterns of neuroimaging abnormalities in common epilepsy syndromes, including temporal lobe epilepsy, extratemporal epilepsy, and genetic generalized epilepsy. Our goal was to rank the most robust white matter microstructural differences across and within syndromes in a multicentre sample of adult epilepsy patients. Diffusion-weighted MRI data were analysed from 1069 healthy controls and 1249 patients: temporal lobe epilepsy with hippocampal sclerosis (n = 599), temporal lobe epilepsy with normal MRI (n = 275), genetic generalized epilepsy (n = 182) and non-lesional extratemporal epilepsy (n = 193). A harmonized protocol using tract-based spatial statistics was used to derive skeletonized maps of fractional anisotropy and mean diffusivity for each participant, and fibre tracts were segmented using a diffusion MRI atlas. Data were harmonized to correct for scanner-specific variations in diffusion measures using a batch-effect correction tool (ComBat). Analyses of covariance, adjusting for age and sex, examined differences between each epilepsy syndrome and controls for each white matter tract (Bonferroni corrected at P

Published
2020

10. Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders

Author

Ducharme, Simon, Dols, Annemiek, Laforce, Robert, Devenney, Emma, Kumfor, Fiona, van den Stock, Jan, Dallaire-Théroux, Caroline, Seelaar, Harro, Gossink, Flora, Vijverberg, Everard, Huey, Edward, Vandenbulcke, Mathieu, Masellis, Mario, Trieu, Calvin, Onyike, Chiadi, Caramelli, Paulo, de Souza, Leonardo Cruz, Santillo, Alexander, Waldö, Maria Landqvist, Landin-Romero, Ramon, Piguet, Olivier, Kelso, Wendy, Eratne, Dhamidhu, Velakoulis, Dennis, Ikeda, Manabu, Perry, David, Pressman, Peter, Boeve, Bradley, Vandenberghe, Rik, Mendez, Mario, Azuar, Carole, Levy, Richard, Le Ber, Isabelle, Baez, Sandra, Lerner, Alan, Ellajosyula, Ratnavalli, Pasquier, Florence, Galimberti, Daniela, Scarpini, Elio, van Swieten, John, Hornberger, Michael, Rosen, Howard, Hodges, John, Diehl-Schmid, Janine, and Pijnenburg, Yolande

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Neurosciences, Dementia, Behavioral and Social Science, Frontotemporal Dementia (FTD), Acquired Cognitive Impairment, Mental Health, Brain Disorders, Prevention, Neurodegenerative, Clinical Research, 4.2 Evaluation of markers and technologies, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Mental health, Neurological, Delayed Diagnosis, Diagnosis, Differential, Female, Fluorodeoxyglucose F18, Frontotemporal Dementia, Humans, Magnetic Resonance Imaging, Male, Mental Disorders, Neuroimaging, Neurologic Examination, Neuropsychological Tests, Positron-Emission Tomography, frontotemporal dementia, psychiatry, differential diagnosis, guidelines, biomarkers, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences
Abstract

The behavioural variant of frontotemporal dementia (bvFTD) is a frequent cause of early-onset dementia. The diagnosis of bvFTD remains challenging because of the limited accuracy of neuroimaging in the early disease stages and the absence of molecular biomarkers, and therefore relies predominantly on clinical assessment. BvFTD shows significant symptomatic overlap with non-degenerative primary psychiatric disorders including major depressive disorder, bipolar disorder, schizophrenia, obsessive-compulsive disorder, autism spectrum disorders and even personality disorders. To date, ∼50% of patients with bvFTD receive a prior psychiatric diagnosis, and average diagnostic delay is up to 5-6 years from symptom onset. It is also not uncommon for patients with primary psychiatric disorders to be wrongly diagnosed with bvFTD. The Neuropsychiatric International Consortium for Frontotemporal Dementia was recently established to determine the current best clinical practice and set up an international collaboration to share a common dataset for future research. The goal of the present paper was to review the existing literature on the diagnosis of bvFTD and its differential diagnosis with primary psychiatric disorders to provide consensus recommendations on the clinical assessment. A systematic literature search with a narrative review was performed to determine all bvFTD-related diagnostic evidence for the following topics: bvFTD history taking, psychiatric assessment, clinical scales, physical and neurological examination, bedside cognitive tests, neuropsychological assessment, social cognition, structural neuroimaging, functional neuroimaging, CSF and genetic testing. For each topic, responsible team members proposed a set of minimal requirements, optimal clinical recommendations, and tools requiring further research or those that should be developed. Recommendations were listed if they reached a ≥ 85% expert consensus based on an online survey among all consortium participants. New recommendations include performing at least one formal social cognition test in the standard neuropsychological battery for bvFTD. We emphasize the importance of 3D-T1 brain MRI with a standardized review protocol including validated visual atrophy rating scales, and to consider volumetric analyses if available. We clarify the role of 18F-fluorodeoxyglucose PET for the exclusion of bvFTD when normal, whereas non-specific regional metabolism abnormalities should not be over-interpreted in the case of a psychiatric differential diagnosis. We highlight the potential role of serum or CSF neurofilament light chain to differentiate bvFTD from primary psychiatric disorders. Finally, based on the increasing literature and clinical experience, the consortium determined that screening for C9orf72 mutation should be performed in all possible/probable bvFTD cases or suspected cases with strong psychiatric features.

Published
2020

15. Neurofilament light and glial fibrillary acidic protein in mood and anxiety disorders: A systematic review and meta-analysis

Author

Kang, Matthew JY, primary, Grewal, Jasleen, additional, Eratne, Dhamidhu, additional, Malpas, Charles, additional, Chiu, Wei-Hsuan, additional, Katisko, Kasper, additional, Solje, Eino, additional, Santillo, Alexander F, additional, Mitchell, Philip B., additional, Hopwood, Malcolm, additional, and Velakoulis, Dennis, additional

Published
2024
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16. In Vivo 7-Tesla MRI Investigation of Brain Iron and Its Metabolic Correlates in Chronic Schizophrenia

Author

Ravanfar, Parsa, Syeda, Warda T., Jayaram, Mahesh, Rushmore, R. Jarrett, Moffat, Bradford, Lin, Alexander P., Lyall, Amanda E., Merritt, Antonia H., Yaghmaie, Negin, Laskaris, Liliana, Luza, Sandra, Opazo, Carlos M., Liberg, Benny, Chakravarty, M. Mallar, Devenyi, Gabriel A., Desmond, Patricia, Cropley, Vanessa L., Makris, Nikos, Shenton, Martha E., Bush, Ashley I., Velakoulis, Dennis, and Pantelis, Christos

Published
2022
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24. Cortico-cognition coupling in treatment resistant schizophrenia

Author

Syeda, Warda T., Wannan, Cassandra M.J., Merritt, Antonia H., Raghava, Jayachandra M., Jayaram, Mahesh, Velakoulis, Dennis, Kristensen, Tina D., Soldatos, Rigas Filippos, Tonissen, Shane, Thomas, Naveen, Ambrosen, Karen S., Sørensen, Mikkel E., Fagerlund, Birgitte, Rostrup, Egill, Glenthøj, Birte Y., Skafidas, Efstratios, Bousman, Chad A., Johnston, Leigh A., Everall, Ian, Ebdrup, Bjørn H., and Pantelis, Christos

Published
2022
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28. Investigating Equivalence of In-Person and Telehealth-Based Neuropsychological Assessment Performance for Individuals Being Investigated for Younger Onset Dementia

Author

Brown, Aimee D, primary, Kelso, Wendy, additional, Eratne, Dhamidhu, additional, Loi, Samantha M, additional, Farrand, Sarah, additional, Summerell, Patrick, additional, Neath, Joanna, additional, Walterfang, Mark, additional, Velakoulis, Dennis, additional, and Stolwyk, Renerus J, additional

Published
2024
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29. Alzheimer's disease biomarker utilization at first referral enhances differential diagnostic precision with simultaneous exclusion of Creutzfeldt‐Jakob disease

Author

Wang, Zitianyu, primary, Lewis, Victoria, additional, Stehmann, Christiane, additional, Varghese, Shiji, additional, Senesi, Matteo, additional, McGlade, Amelia, additional, Ellett, Laura J., additional, Doecke, James D., additional, Eratne, Dhamidhu, additional, Velakoulis, Dennis, additional, Masters, Colin L., additional, Collins, Steven J., additional, and Li, Qiao‐Xin, additional

Published
2024
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32. Plasma neurofilament light protein provides evidence of accelerated brain ageing in treatment-resistant schizophrenia

Author

Wannan, Cassandra M J, primary, Eratne, Dhamidhu, additional, Santillo, Alexander, additional, Malpas, Charles, additional, Cilia, Brandon, additional, Dean, Olivia M, additional, Walker, Adam, additional, Berk, Michael, additional, Bousman, Chad, additional, Everall, Ian, additional, Velakoulis, Dennis, additional, and Pantelis, Christos, additional

Published
2023
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37. Adverse events related to antiepileptic drugs

Author

Dang, Yew Li, Foster, Emma, Lloyd, Michael, Rayner, Genevieve, Rychkova, Maria, Ali, Rashida, Carney, Patrick W., Velakoulis, Dennis, Winton-Brown, Toby T., Kalincik, Tomas, Perucca, Piero, O'Brien, Terence J., Kwan, Patrick, and Malpas, Charles B.

Published
2021
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39. The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Author

Eratne, Dhamidhu, Schneider, Amy, Lynch, Ella, Martyn, Melissa, Velakoulis, Dennis, Fahey, Michael, Kwan, Patrick, Leventer, Richard, Rafehi, Haloom, Chong, Belinda, Stark, Zornitza, Lunke, Sebastian, Phelan, Dean G., O'Keefe, Melanie, Siemering, Kirby, West, Kirsty, Sexton, Adrienne, Jarmolowicz, Anna, Taylor, Jessica A., Schultz, Joshua, Purvis, Rebecca, Uebergang, Eloise, Chalinor, Heather, Creighton, Belinda, Gelfand, Nikki, Saks, Tamar, Prawer, Yael, Smagarinsky, Yana, Pan, Tianxin, Goranitis, Ilias, Ademi, Zanfina, Gaff, Clara, Huq, Aamira, Walsh, Maie, James, Paul A., Krzesinski, Emma I., Wallis, Mathew, Stutterd, Chloe A., Bahlo, Melanie, Delatycki, Martin B., and Berkovic, Samuel F.

Published
2021
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41. Enlarged hippocampal fissure in psychosis of epilepsy

Author

Allebone, James, Kanaan, Richard A., Maller, Jerome J., O'Brien, Terrence, Mullen, Saul, Cook, Mark, Adams, Sophie, Vogrin, Simon, Vaughan, David, Connelly, Alan, Kwan, Patrick, Berkovic, Samuel F., D'Souza, Wendyl, Jackson, Graeme, Velakoulis, Dennis, and Wilson, Sarah J.

Published
2020
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