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2. Genetic variants associated with longitudinal changes in brain structure across the lifespan

Author

Brouwer, Rachel M, Klein, Marieke, Grasby, Katrina L, Schnack, Hugo G, Jahanshad, Neda, Teeuw, Jalmar, Thomopoulos, Sophia I, Sprooten, Emma, Franz, Carol E, Gogtay, Nitin, Kremen, William S, Panizzon, Matthew S, Olde Loohuis, Loes M, Whelan, Christopher D, Aghajani, Moji, Alloza, Clara, Alnæs, Dag, Artiges, Eric, Ayesa-Arriola, Rosa, Barker, Gareth J, Bastin, Mark E, Blok, Elisabet, Bøen, Erlend, Breukelaar, Isabella A, Bright, Joanna K, Buimer, Elizabeth EL, Bülow, Robin, Cannon, Dara M, Ciufolini, Simone, Crossley, Nicolas A, Damatac, Christienne G, Dazzan, Paola, de Mol, Casper L, de Zwarte, Sonja MC, Desrivières, Sylvane, Díaz-Caneja, Covadonga M, Doan, Nhat Trung, Dohm, Katharina, Fröhner, Juliane H, Goltermann, Janik, Grigis, Antoine, Grotegerd, Dominik, Han, Laura KM, Harris, Mathew A, Hartman, Catharina A, Heany, Sarah J, Heindel, Walter, Heslenfeld, Dirk J, Hohmann, Sarah, Ittermann, Bernd, Jansen, Philip R, Janssen, Joost, Jia, Tianye, Jiang, Jiyang, Jockwitz, Christiane, Karali, Temmuz, Keeser, Daniel, Koevoets, Martijn GJC, Lenroot, Rhoshel K, Malchow, Berend, Mandl, René CW, Medel, Vicente, Meinert, Susanne, Morgan, Catherine A, Mühleisen, Thomas W, Nabulsi, Leila, Opel, Nils, de la Foz, Víctor Ortiz-García, Overs, Bronwyn J, Paillère Martinot, Marie-Laure, Redlich, Ronny, Marques, Tiago Reis, Repple, Jonathan, Roberts, Gloria, Roshchupkin, Gennady V, Setiaman, Nikita, Shumskaya, Elena, Stein, Frederike, Sudre, Gustavo, Takahashi, Shun, Thalamuthu, Anbupalam, Tordesillas-Gutiérrez, Diana, van der Lugt, Aad, van Haren, Neeltje EM, Wardlaw, Joanna M, Wen, Wei, Westeneng, Henk-Jan, Wittfeld, Katharina, Zhu, Alyssa H, Zugman, Andre, Armstrong, Nicola J, Bonfiglio, Gaia, Bralten, Janita, Dalvie, Shareefa, Davies, Gail, Di Forti, Marta, Ding, Linda, Donohoe, Gary, Forstner, Andreas J, and Gonzalez-Peñas, Javier

Subjects
Biological Psychology, Psychology, Genetics, Biomedical Imaging, Mental Health, Biotechnology, Human Genome, Prevention, Aging, Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Brain, Genome-Wide Association Study, Humans, Longevity, Magnetic Resonance Imaging, IMAGEN Consortium, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Human brain structure changes throughout the lifespan. Altered brain growth or rates of decline are implicated in a vast range of psychiatric, developmental and neurodegenerative diseases. In this study, we identified common genetic variants that affect rates of brain growth or atrophy in what is, to our knowledge, the first genome-wide association meta-analysis of changes in brain morphology across the lifespan. Longitudinal magnetic resonance imaging data from 15,640 individuals were used to compute rates of change for 15 brain structures. The most robustly identified genes GPR139, DACH1 and APOE are associated with metabolic processes. We demonstrate global genetic overlap with depression, schizophrenia, cognitive functioning, insomnia, height, body mass index and smoking. Gene set findings implicate both early brain development and neurodegenerative processes in the rates of brain changes. Identifying variants involved in structural brain changes may help to determine biological pathways underlying optimal and dysfunctional brain development and aging.

Published
2022

4. Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

Author

Sønderby, Ida E, Ching, Christopher RK, Thomopoulos, Sophia I, van der Meer, Dennis, Sun, Daqiang, Villalon‐Reina, Julio E, Agartz, Ingrid, Amunts, Katrin, Arango, Celso, Armstrong, Nicola J, Ayesa‐Arriola, Rosa, Bakker, Geor, Bassett, Anne S, Boomsma, Dorret I, Bülow, Robin, Butcher, Nancy J, Calhoun, Vince D, Caspers, Svenja, Chow, Eva WC, Cichon, Sven, Ciufolini, Simone, Craig, Michael C, Crespo‐Facorro, Benedicto, Cunningham, Adam C, Dale, Anders M, Dazzan, Paola, de Zubicaray, Greig I, Djurovic, Srdjan, Doherty, Joanne L, Donohoe, Gary, Draganski, Bogdan, Durdle, Courtney A, Ehrlich, Stefan, Emanuel, Beverly S, Espeseth, Thomas, Fisher, Simon E, Ge, Tian, Glahn, David C, Grabe, Hans J, Gur, Raquel E, Gutman, Boris A, Haavik, Jan, Håberg, Asta K, Hansen, Laura A, Hashimoto, Ryota, Hibar, Derrek P, Holmes, Avram J, Hottenga, Jouke‐Jan, Pol, Hilleke E Hulshoff, Jalbrzikowski, Maria, Knowles, Emma EM, Kushan, Leila, Linden, David EJ, Liu, Jingyu, Lundervold, Astri J, Martin‐Brevet, Sandra, Martínez, Kenia, Mather, Karen A, Mathias, Samuel R, McDonald‐McGinn, Donna M, McRae, Allan F, Medland, Sarah E, Moberget, Torgeir, Modenato, Claudia, Sánchez, Jennifer Monereo, Moreau, Clara A, Mühleisen, Thomas W, Paus, Tomas, Pausova, Zdenka, Prieto, Carlos, Ragothaman, Anjanibhargavi, Reinbold, Céline S, Marques, Tiago Reis, Repetto, Gabriela M, Reymond, Alexandre, Roalf, David R, Rodriguez‐Herreros, Borja, Rucker, James J, Sachdev, Perminder S, Schmitt, James E, Schofield, Peter R, Silva, Ana I, Stefansson, Hreinn, Stein, Dan J, Tamnes, Christian K, Tordesillas‐Gutiérrez, Diana, Ulfarsson, Magnus O, Vajdi, Ariana, van 't Ent, Dennis, van den Bree, Marianne BM, Vassos, Evangelos, Vázquez‐Bourgon, Javier, Vila‐Rodriguez, Fidel, Walters, G Bragi, Wen, Wei, Westlye, Lars T, Wittfeld, Katharina, Zackai, Elaine H, Stefánsson, Kári, and Jacquemont, Sebastien

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Mental Health, Clinical Research, Pediatric, Genetics, Basic Behavioral and Social Science, Human Genome, Prevention, Brain Disorders, Behavioral and Social Science, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Brain, DNA Copy Number Variations, Humans, Magnetic Resonance Imaging, Mental Disorders, Multicenter Studies as Topic, Neurodevelopmental Disorders, Neuroimaging, brain structural imaging, copy number variant, diffusion tensor imaging, evolution, genetics-first approach, neurodevelopmental disorders, psychiatric disorders, ENIGMA-CNV Working Group, ENIGMA 22q11.2 Deletion Syndrome Working Group, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology
Abstract

The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest-ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi-site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene-dosage effects on distinct brain regions also emerged, providing further insight into genotype-phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This "genotype-first" approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.

Published
2022

5. Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

Author

Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J., Artiges, Eric, Atkins, Joshua R., Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I., Brodaty, Henry, Brosch, Katharina, Buckner, Randy L., Cairns, Murray J., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P., Crespo-Facorro, Benedicto, Dannlowski, Udo, David, Friederike S., de Geus, Eco J.C., de Zubicaray, Greig I., Desrivières, Sylvane, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Forstner, Andreas J., Fortaner-Uyà, Lidia, Frouin, Vincent, Fukunaga, Masaki, Ge, Tian, Glahn, David C., Goltermann, Janik, Grabe, Hans J., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Grøntvedt, Gøril Rolfseng, Hahn, Tim, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Henskens, Frans A., Holmes, Avram J., Håberg, Asta K., Haavik, Jan, Jacquemont, Sebastien, Jansen, Andreas, Jockwitz, Christiane, Jönsson, Erik G., Kikuchi, Masataka, Kircher, Tilo, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E., Liu, Jingyu, Loughnan, Robert, Mather, Karen A., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meinert, Susanne, Moreau, Clara A., Morris, Derek W., Mowry, Bryan J., Mühleisen, Thomas W., Nenadić, Igor, Nöthen, Markus M., Nyberg, Lars, Ophoff, Roel A., Owen, Michael J., Pantelis, Christos, Paolini, Marco, Paus, Tomas, Pausova, Zdenka, Persson, Karin, Quidé, Yann, Marques, Tiago Reis, Sachdev, Perminder S., Sando, Sigrid B., Schall, Ulrich, Scott, Rodney J., Selbæk, Geir, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Stein, Frederike, Stein, Dan J., Straube, Benjamin, Streit, Fabian, Strike, Lachlan T., Teumer, Alexander, Teutenberg, Lea, Thalamuthu, Anbupalam, Tooney, Paul A., Tordesillas-Gutierrez, Diana, Trollor, Julian N., van ’t Ent, Dennis, van den Bree, Marianne B.M., van Haren, Neeltje E.M., Vázquez-Bourgon, Javier, Völzke, Henry, Wen, Wei, Wittfeld, Katharina, Ching, Christopher R.K., Westlye, Lars T., Thompson, Paul M., Bearden, Carrie E., Selmer, Kaja K., Alnæs, Dag, Andreassen, Ole A., and Sønderby, Ida E.

Published
2024
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6. Emotion regulation and the salience network: a hypothetical integrative model of fibromyalgia

Author

Pinto, Ana Margarida, Geenen, Rinie, Wager, Tor D., Lumley, Mark A., Häuser, Winfried, Kosek, Eva, Ablin, Jacob N., Amris, Kirstine, Branco, Jaime, Buskila, Dan, Castelhano, João, Castelo-Branco, Miguel, Crofford, Leslie J., Fitzcharles, Mary-Ann, López-Solà, Marina, Luís, Mariana, Marques, Tiago Reis, Mease, Philip J., Palavra, Filipe, Rhudy, Jamie L., Uddin, Lucina Q., Castilho, Paula, Jacobs, Johannes W. G., and da Silva, José A. P.

Published
2023
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7. Neurophysiological and psychosocial mechanisms of fibromyalgia: A comprehensive review and call for an integrative model

Author

Pinto, Ana Margarida, Luís, Mariana, Geenen, Rinie, Palavra, Filipe, Lumley, Mark A., Ablin, Jacob N., Amris, Kirstine, Branco, Jaime, Buskila, Dan, Castelhano, João, Castelo-Branco, Miguel, Crofford, Leslie J., Fitzcharles, Mary-Ann, Häuser, Winfried, Kosek, Eva, Mease, Philip J., Marques, Tiago Reis, Jacobs, Johannes W.G., Castilho, Paula, and da Silva, José A.P.

Published
2023
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11. Reply to ‘Imbalance of threat and soothing systems in fibromyalgia: rephrasing an established mechanistic model?’

Author

Pinto, Ana Margarida, Geenen, Rinie, Wager, Tor D., Lumley, Mark A., Häuser, Winfried, Kosek, Eva, Ablin, Jacob N., Amris, Kirstine, Branco, Jaime, Buskila, Dan, Castelhano, João, Castelo-Branco, Miguel, Crofford, Leslie J., Fitzcharles, Mary-Ann, López-Solà, Marina, Luís, Mariana, Marques, Tiago Reis, Mease, Philip J., Palavra, Filipe, Rhudy, Jamie L., Uddin, Lucina Q., Castilho, Paula, Jacobs, Johannes W. G., and da Silva, José A. P.

Published
2023
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12. Reply to: Hypothetical model ignores many important pathophysiologic mechanisms in fibromyalgia

Author

Pinto, Ana Margarida, Geenen, Rinie, Wager, Tor D., Häuser, Winfried, Kosek, Eva, Ablin, Jacob N., Amris, Kirstine, Branco, Jaime, Buskila, Dan, Castelhano, João, Castelo-Branco, Miguel, Crofford, Leslie J., Fitzcharles, Mary-Ann, López-Solà, Marina, Luís, Mariana, Marques, Tiago Reis, Mease, Philip J., Palavra, Filipe, Rhudy, Jamie L., Uddin, Lucina Q., Castilho, Paula, Jacobs, Johannes W. G., and da Silva, José A. P.

Published
2023
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17. Beyond the Global Brain Differences:Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

Author

Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J., Artiges, Eric, Atkins, Joshua R., Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I., Brodaty, Henry, Brosch, Katharina, Buckner, Randy L., Cairns, Murray J., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P., Crespo-Facorro, Benedicto, Dannlowski, Udo, David, Friederike S., de Geus, Eco J.C., de Zubicaray, Greig I., Desrivières, Sylvane, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Forstner, Andreas J., Fortaner-Uyà, Lidia, Frouin, Vincent, Fukunaga, Masaki, Ge, Tian, Glahn, David C., Goltermann, Janik, Grabe, Hans J., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Grøntvedt, Gøril Rolfseng, Hahn, Tim, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Henskens, Frans A., Holmes, Avram J., Håberg, Asta K., Haavik, Jan, Jacquemont, Sebastien, Jansen, Andreas, Jockwitz, Christiane, Jönsson, Erik G., Kikuchi, Masataka, Kircher, Tilo, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E., Liu, Jingyu, Loughnan, Robert, Mather, Karen A., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meinert, Susanne, Moreau, Clara A., Morris, Derek W., Mowry, Bryan J., Mühleisen, Thomas W., Nenadić, Igor, Nöthen, Markus M., Nyberg, Lars, Ophoff, Roel A., Owen, Michael J., Pantelis, Christos, Paolini, Marco, Paus, Tomas, Pausova, Zdenka, Persson, Karin, Quidé, Yann, Marques, Tiago Reis, Sachdev, Perminder S., Sando, Sigrid B., Schall, Ulrich, Scott, Rodney J., Selbæk, Geir, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Stein, Frederike, Stein, Dan J., Straube, Benjamin, Streit, Fabian, Strike, Lachlan T., Teumer, Alexander, Teutenberg, Lea, Thalamuthu, Anbupalam, Tooney, Paul A., Tordesillas-Gutierrez, Diana, Trollor, Julian N., van ’t Ent, Dennis, van den Bree, Marianne B.M., van Haren, Neeltje E.M., Vázquez-Bourgon, Javier, Völzke, Henry, Wen, Wei, Wittfeld, Katharina, Ching, Christopher R.K., Westlye, Lars T., Thompson, Paul M., Bearden, Carrie E., Selmer, Kaja K., Alnæs, Dag, Andreassen, Ole A., Sønderby, Ida E., Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J., Artiges, Eric, Atkins, Joshua R., Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I., Brodaty, Henry, Brosch, Katharina, Buckner, Randy L., Cairns, Murray J., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P., Crespo-Facorro, Benedicto, Dannlowski, Udo, David, Friederike S., de Geus, Eco J.C., de Zubicaray, Greig I., Desrivières, Sylvane, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Forstner, Andreas J., Fortaner-Uyà, Lidia, Frouin, Vincent, Fukunaga, Masaki, Ge, Tian, Glahn, David C., Goltermann, Janik, Grabe, Hans J., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Grøntvedt, Gøril Rolfseng, Hahn, Tim, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Henskens, Frans A., Holmes, Avram J., Håberg, Asta K., Haavik, Jan, Jacquemont, Sebastien, Jansen, Andreas, Jockwitz, Christiane, Jönsson, Erik G., Kikuchi, Masataka, Kircher, Tilo, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E., Liu, Jingyu, Loughnan, Robert, Mather, Karen A., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meinert, Susanne, Moreau, Clara A., Morris, Derek W., Mowry, Bryan J., Mühleisen, Thomas W., Nenadić, Igor, Nöthen, Markus M., Nyberg, Lars, Ophoff, Roel A., Owen, Michael J., Pantelis, Christos, Paolini, Marco, Paus, Tomas, Pausova, Zdenka, Persson, Karin, Quidé, Yann, Marques, Tiago Reis, Sachdev, Perminder S., Sando, Sigrid B., Schall, Ulrich, Scott, Rodney J., Selbæk, Geir, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Stein, Frederike, Stein, Dan J., Straube, Benjamin, Streit, Fabian, Strike, Lachlan T., Teumer, Alexander, Teutenberg, Lea, Thalamuthu, Anbupalam, Tooney, Paul A., Tordesillas-Gutierrez, Diana, Trollor, Julian N., van ’t Ent, Dennis, van den Bree, Marianne B.M., van Haren, Neeltje E.M., Vázquez-Bourgon, Javier, Völzke, Henry, Wen, Wei, Wittfeld, Katharina, Ching, Christopher R.K., Westlye, Lars T., Thompson, Paul M., Bearden, Carrie E., Selmer, Kaja K., Alnæs, Dag, Andreassen, Ole A., and Sønderby, Ida E.

Abstract

BACKGROUND: Carriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional differences beyond global differences in brain structure. METHODS: Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual’s regional difference and global difference, were used to test for regional differences that diverge from the global difference. RESULTS: For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness. CONCLUSIONS: We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms involved in altered neurodevelopment.

Published
2024

19. The relationship between SV2A levels, neural activity, and cognitive function in healthy humans: A [11C]UCB-J PET and fMRI study

Author

Shatalina, Ekaterina, primary, Onwordi, Ellis Chika, additional, Whitehurst, Thomas, additional, Whittington, Alexander, additional, Mansur, Ayla, additional, Arumuham, Atheeshaan, additional, Statton, Ben, additional, Berry, Alaine, additional, Marques, Tiago Reis, additional, Gunn, Roger N., additional, Natesan, Sridhar, additional, Nour, Matthew M., additional, Rabiner, Eugenii A., additional, Wall, Matthew B., additional, and Howes, Oliver D., additional

Published
2024
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20. The relationship between synaptic density marker SV2A, glutamate and N-acetyl aspartate levels in healthy volunteers and schizophrenia: a multimodal PET and magnetic resonance spectroscopy brain imaging study

Author

Onwordi, Ellis Chika, Whitehurst, Thomas, Mansur, Ayla, Statton, Ben, Berry, Alaine, Quinlan, Marina, O’Regan, Declan P., Rogdaki, Maria, Marques, Tiago Reis, Rabiner, Eugenii A., Gunn, Roger N., Vernon, Anthony C., Natesan, Sridhar, and Howes, Oliver D.

Published
2021
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21. Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Author

Sønderby, Ida E, Gústafsson, Ómar, Doan, Nhat Trung, Hibar, Derrek P, Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dale, Anders M, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J C, de Zubicaray, Greig I., de Zwarte, Sonja M. C., Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans, Groenewold, Nynke A., Haavik, Jan, Håberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hillegers, Manon H. J., Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma E M, Kolskår, Knut K, Kwok, John B, Hellard, Stephanie Le, Leu, Costin, Liu, Jingyu, Lundervold, Astri J, Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Mühleisen, Thomas W, Murray, Robin, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M, Pike, Bruce, Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Quintana, Daniel S, Reinbold, Céline S, Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santiañez, Roberto, Rokicki, Jarek, Rucker, James, Sachdev, Perminder, Sanders, Anne-Marthe, Sando, Sigrid B, Schmaal, Lianne, Schofield, Peter R, Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Sisodiya, Sanjay, Steen, Vidar M, Stein, Dan J, Steinberg, Stacy, Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Tordesillas-Gutierrez, Diana, Turner, Jessica, Ueland, Torill, Uhlmann, Anne, Ulfarsson, Magnus O., van ’t Ent, Dennis, van der Meer, Dennis, van Haren, Neeltje E. M., Vaskinn, Anja, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D, Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Zayats, Tetyana, Agartz, Ingrid, Westlye, Lars T, Jacquemont, Sébastien, Djurovic, Srdjan, Stefánsson, Hreinn, Stefánsson, Kári, Thompson, Paul, and Andreassen, Ole A.

Published
2020
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22. Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Author

Sønderby, Ida E., Gústafsson, Ómar, Doan, Nhat Trung, Hibar, Derrek P., Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I., Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M., Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Dale, Anders M., Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J. C., de Zubicaray, Greig I., de Zwarte, Sonja M. C., Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E., Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C., Grabe, Hans, Groenewold, Nynke A., Haavik, Jan, Håberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Heinz, Andreas, Hillegers, Manon H. J., Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E., Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A., Jönsson, Erik G., Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma E. M., Kolskår, Knut K., Kwok, John B., Hellard, Stephanie Le, Leu, Costin, Liu, Jingyu, Lundervold, Astri J., Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Mühleisen, Thomas W., Murray, Robin, Nordvik, Jan E., Nyberg, Lars, Olde Loohuis, Loes M., Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M., Pike, Bruce, Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Quintana, Daniel S., Reinbold, Céline S., Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santiañez, Roberto, Rokicki, Jarek, Rucker, James, Sachdev, Perminder, Sanders, Anne-Marthe, Sando, Sigrid B., Schmaal, Lianne, Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Sisodiya, Sanjay, Steen, Vidar M., Stein, Dan J., Steinberg, Stacy, Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Tordesillas-Gutierrez, Diana, Turner, Jessica, Ueland, Torill, Uhlmann, Anne, Ulfarsson, Magnus O., van ’t Ent, Dennis, van der Meer, Dennis, van Haren, Neeltje E. M., Vaskinn, Anja, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D., Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Zayats, Tetyana, Agartz, Ingrid, Westlye, Lars T., Jacquemont, Sébastien, Djurovic, Srdjan, Stefánsson, Hreinn, Stefánsson, Kári, Thompson, Paul, and Andreassen, Ole A.

Published
2020
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26. Mitochondrial complex I density is associated with IQ and cognition in cognitively healthy adults: an in vivo [18F]BCPP-EF PET study.

Author

Shatalina, Ekaterina, Whitehurst, Thomas S., Onwordi, Ellis Chika, Gilbert, Barnabas J., Rizzo, Gaia, Whittington, Alex, Mansur, Ayla, Tsukada, Hideo, Marques, Tiago Reis, Natesan, Sridhar, Rabiner, Eugenii A., Wall, Matthew B., and Howes, Oliver D.

Subjects
PREFRONTAL cortex, NEURAL transmission, FRONTAL lobe, MITOCHONDRIA, POSITRON emission tomography, INTELLIGENCE levels, PARIETAL lobe
Abstract

Background: Mitochondrial function plays a key role in regulating neurotransmission and may contribute to general intelligence. Mitochondrial complex I (MC-I) is the largest enzyme of the respiratory chain. Recently, it has become possible to measure MC-I distribution in vivo, using a novel positron emission tomography tracer [18F]BCPP-EF, thus, we set out to investigate the association between MC-I distribution and measures of cognitive function in the living healthy brain. Results: Analyses were performed in a voxel-wise manner and identified significant associations between [18F]BCPP-EF DVRCS−1 in the precentral gyrus and parietal lobes and WAIS-IV predicted IQ, WAIS-IV arithmetic and WAIS-IV symbol-digit substitution scores (voxel-wise Pearson's correlation coefficients transformed to Z-scores, thresholded at Z = 2.3 family-wise cluster correction at p < 0.05, n = 16). Arithmetic scores were associated with middle frontal and post-central gyri tracer uptake, symbol-digit substitution scores were associated with precentral gyrus tracer uptake. RAVLT recognition scores were associated with [18F]BCPP-EF DVRCS−1 in the middle frontal gyrus, post-central gyrus, occipital and parietal regions (n = 20). Conclusions: Taken together, our findings support the theory that mitochondrial function may contribute to general intelligence and indicate that interindividual differences in MC-I should be a key consideration for research into mitochondrial dysfunction in conditions with cognitive impairment. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Synaptic Terminal Density Early in the Course of Schizophrenia: An In Vivo UCB-J Positron Emission Tomographic Imaging Study of Synaptic Vesicle Glycoprotein 2A

Author

Onwordi, Ellis Chika, primary, Whitehurst, Thomas, additional, Shatalina, Ekaterina, additional, Mansur, Ayla, additional, Arumuham, Atheeshaan, additional, Osugo, Martin, additional, Marques, Tiago Reis, additional, Jauhar, Sameer, additional, Gupta, Susham, additional, Mehrotra, Ravi, additional, Rabiner, Eugenii A., additional, Gunn, Roger N., additional, Natesan, Sridhar, additional, and Howes, Oliver D., additional

Published
2023
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29. Efficacy and safety of adjunctive bitopertin versus placebo in patients with suboptimally controlled symptoms of schizophrenia treated with antipsychotics: results from three phase 3, randomised, double-blind, parallel-group, placebo-controlled, multicentre studies in the SearchLyte clinical trial programme

Author

Bugarski-Kirola, Dragana, Iwata, Nakao, Sameljak, Snjezana, Reid, Carol, Blaettler, Thomas, Millar, Laurie, Marques, Tiago Reis, Garibaldi, George, and Kapur, Shitij

Published
2016
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30. 5. Effects of Sustained D2 Receptors Blockade on Brain Structure and Function in Healthy Volunteers

Author

Selvaggi, Pierluigi, primary, Osugo, Martin, additional, Dipasquale, Ottavia, additional, Zahid, Uzma, additional, Whitehurst, Thomas, additional, Onwordi, Ellis, additional, Statton, Ben, additional, Wood, Tobias, additional, Veronese, Mattia, additional, Marques, Tiago Reis, additional, Murray, Robin, additional, Mehta, Mitul, additional, and Howes, Oliver, additional

Published
2023
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31. Emotion regulation and the salience network: a hypothetical integrative model of fibromyalgia

Author

MS Reumatologie/Immunologie/Infectie, Infection & Immunity, Pinto, Ana Margarida, Geenen, Rinie, Wager, Tor D., Lumley, Mark A., Häuser, Winfried, Kosek, Eva, Ablin, Jacob N., Amris, Kirstine, Branco, Jaime, Buskila, Dan, Castelhano, João, Castelo-Branco, Miguel, Crofford, Leslie J., Fitzcharles, Mary Ann, López-Solà, Marina, Luís, Mariana, Marques, Tiago Reis, Mease, Philip J., Palavra, Filipe, Rhudy, Jamie L., Uddin, Lucina Q., Castilho, Paula, Jacobs, Johannes W.G., da Silva, José A.P., MS Reumatologie/Immunologie/Infectie, Infection & Immunity, Pinto, Ana Margarida, Geenen, Rinie, Wager, Tor D., Lumley, Mark A., Häuser, Winfried, Kosek, Eva, Ablin, Jacob N., Amris, Kirstine, Branco, Jaime, Buskila, Dan, Castelhano, João, Castelo-Branco, Miguel, Crofford, Leslie J., Fitzcharles, Mary Ann, López-Solà, Marina, Luís, Mariana, Marques, Tiago Reis, Mease, Philip J., Palavra, Filipe, Rhudy, Jamie L., Uddin, Lucina Q., Castilho, Paula, Jacobs, Johannes W.G., and da Silva, José A.P.

Published
2023

34. Proportion of patients in south London with first-episode psychosis attributable to use of high potency cannabis: a case-control study

Author

Di Forti, Marta, Marconi, Arianna, Carra, Elena, Fraietta, Sara, Trotta, Antonella, Bonomo, Matteo, Bianconi, Francesca, Gardner-Sood, Poonam, O'Connor, Jennifer, Russo, Manuela, Stilo, Simona A, Marques, Tiago Reis, Mondelli, Valeria, Dazzan, Paola, Pariante, Carmine, David, Anthony S, Gaughran, Fiona, Atakan, Zerrin, Iyegbe, Conrad, Powell, John, Morgan, Craig, Lynskey, Michael, and Murray, Robin M

Published
2015
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35. Emotion regulation and the salience network: a hypothetical integrative model of fibromyalgia

Author

Pinto, Ana Margarida, primary, Geenen, Rinie, additional, Wager, Tor D., additional, Lumley, Mark A., additional, Häuser, Winfried, additional, Kosek, Eva, additional, Ablin, Jacob N., additional, Amris, Kirstine, additional, Branco, Jaime, additional, Buskila, Dan, additional, Castelhano, João, additional, Castelo-Branco, Miguel, additional, Crofford, Leslie J., additional, Fitzcharles, Mary-Ann, additional, López-Solà, Marina, additional, Luís, Mariana, additional, Marques, Tiago Reis, additional, Mease, Philip J., additional, Palavra, Filipe, additional, Rhudy, Jamie L., additional, Uddin, Lucina Q., additional, Castilho, Paula, additional, Jacobs, Johannes W. G., additional, and da Silva, José A. P., additional

Published
2022
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36. Hypothetical model ignores many important pathophysiologic mechanisms in fibromyalgia

Author

Pinto, Ana Margarida, Geenen, Rinie, Wager, Tor D., Häuser, Winfried, Kosek, Eva, Ablin, Jacob N., Amris, Kirstine, Branco, Jaime, Buskila, Dan, Castelhano, João, Castelo-Branco, Miguel, Crofford, Leslie J., Fitzcharles, Mary Ann, López-Solà, Marina, Luís, Mariana, Marques, Tiago Reis, Mease, Philip J., Palavra, Filipe, Rhudy, Jamie L., Uddin, Lucina Q., Castilho, Paula, Jacobs, Johannes W.G., da Silva, José A.P., NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), and Comprehensive Health Research Centre (CHRC) - pólo NMS

Subjects
Rheumatology
Abstract

ok publishersversion epub_ahead_of_print

Published
2023

37. rephrasing an established mechanistic model?’

Author

Pinto, Ana Margarida, Geenen, Rinie, Wager, Tor D., Lumley, Mark A., Häuser, Winfried, Kosek, Eva, Ablin, Jacob N., Amris, Kirstine, Branco, Jaime, Buskila, Dan, Castelhano, João, Castelo-Branco, Miguel, Crofford, Leslie J., Fitzcharles, Mary Ann, López-Solà, Marina, Luís, Mariana, Marques, Tiago Reis, Mease, Philip J., Palavra, Filipe, Rhudy, Jamie L., Uddin, Lucina Q., Castilho, Paula, Jacobs, Johannes W.G., da Silva, José A.P., NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), and Comprehensive Health Research Centre (CHRC) - pólo NMS

Subjects
Rheumatology
Abstract

ok publishersversion epub_ahead_of_print

Published
2023

38. The effect of AUT00206, a Kv3 potassium channel modulator, on dopamine synthesis capacity and the reliability of [18F]-FDOPA imaging in schizophrenia

Author

Angelescu, Ilinca, primary, Kaar, Stephen J, additional, Marques, Tiago Reis, additional, Borgan, Faith, additional, Veronesse, Mattia, additional, Sharman, Alice, additional, Sajjala, Anil, additional, Deakin, Bill, additional, Hutchison, John, additional, Large, Charles, additional, and Howes, Oliver D, additional

Published
2022
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41. Magnetic resonance imaging in first-episode psychosis

Author

Falkenberg, Irina, Benetti, Stefania, Raffln, Marie, Wuyts, Phillipe, Pettersson-Yeo, William, Dazzan, Paola, Morgan, Kevin D., Munray, Robin M., Marques, TIago Reis, David, Anthony S., Jarosz, Jozef, Simmons, Andrew, Williams, Steve, and McGuIre, Philip

Published
2017

43. Real-world clinical and cost-effectiveness of community clozapine initiation: mirror cohort study

Author

Butler, Emma, primary, Pillinger, Toby, additional, Brown, Kirsten, additional, Borgan, Faith, additional, Bowen, Alice, additional, Beck, Katherine, additional, D'Ambrosio, Enrico, additional, Donaldson, Lisa, additional, Jauhar, Sameer, additional, Kaar, Stephen, additional, Marques, Tiago Reis, additional, McCutcheon, Robert A., additional, Rogdaki, Maria, additional, Gaughran, Fiona, additional, MacCabe, James, additional, Ramsay, Rosalind, additional, Taylor, David, additional, McCrone, Paul, additional, Egerton, Alice, additional, and Howes, Oliver D., additional

Published
2022
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44. sj-docx-1-jop-10.1177_02698811221122031 – Supplemental material for The effect of AUT00206, a Kv3 potassium channel modulator, on dopamine synthesis capacity and the reliability of [18F]-FDOPA imaging in schizophrenia

Author

Angelescu, Ilinca, Kaar, Stephen J, Marques, Tiago Reis, Borgan, Faith, Veronesse, Mattia, Sharman, Alice, Sajjala, Anil, Deakin, Bill, Hutchison, John, Large, Charles, and Howes, Oliver D

Subjects
FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 110319 Psychiatry (incl. Psychotherapy), 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases
Abstract

Supplemental material, sj-docx-1-jop-10.1177_02698811221122031 for The effect of AUT00206, a Kv3 potassium channel modulator, on dopamine synthesis capacity and the reliability of [18F]-FDOPA imaging in schizophrenia by Ilinca Angelescu, Stephen J Kaar, Tiago Reis Marques, Faith Borgan, Mattia Veronesse, Alice Sharman, Anil Sajjala, Bill Deakin, John Hutchison, Charles Large and Oliver D Howes in Journal of Psychopharmacology

Published
2022
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47. Abnormal cortisol levels during the day and cortisol awakening response in first-episode psychosis: The role of stress and of antipsychotic treatment

Author

Mondelli, Valeria, Dazzan, Paola, Hepgul, Nilay, Di Forti, Marta, Aas, Monica, D'Albenzio, Alessandro, Di Nicola, Marco, Fisher, Helen, Handley, Rowena, Marques, Tiago Reis, Morgan, Craig, Navari, Serena, Taylor, Heather, Papadopoulos, Andrew, Aitchison, Katherine J., Murray, Robin M., and Pariante, Carmine M.

Published
2010
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49. Adenosine A2A receptor in schizophrenia: an in vivo brain PET imaging study.

Author

Marques, Tiago Reis, Natesan, Sridhar, Rabiner, Eugenii A., Searle, Graham E., Gunn, Roger, Howes, Oliver D., and Kapur, Shitij

Subjects
*SCHIZOPHRENIA, *EMISSION-computed tomography, *ANTIPSYCHOTIC agents, *PSYCHOSES
Abstract

Adenosine A2A receptors are highly enriched in the basal ganglia system, a region that is functionally implicated in schizophrenia. Preclinical evidence suggests a cross-regulation between adenosine A2A and dopamine D2 receptors in this region and that it is linked to the sensitization of the dopamine system. However, the relationship between A2A receptor availability and schizophrenia has not been directly examined in vivo in patients with this disorder. To investigate, using positron emission tomography (PET), the availability of A2A receptors in patients diagnosed with schizophrenia in comparison to matched healthy controls. A2A receptor availability was measured using the PET tracer [11C]SCH442416. Twelve male patients with chronic schizophrenia were compared to 13 matched healthy subjects. All patients were medicated with antipsychotics and none presented with any motor or extrapyramidal symptoms. Binding potential (BPND), a ratio measure between specific and non-specific tracer uptake, were compared between the groups for the caudate, putamen, accumbens and globus pallidum. There was no differences between A2A receptor binding potential (BPND) of schizophrenia patients in the caudate (p = 0.16), putamen (p = 0.86), accumbens (p = 0.44) and globus pallidum (p = 0.09) to that of matched healthy subjects. There was also no significant correlation between [11C]SCH442416 binding and severity of psychotic symptoms (p = 0.2 to 0.82) or antipsychotic dosage (p = 0.13 to 0.34). By showing that A2A receptor availability in medicated patients with chronic male schizophrenia is not different than in healthy controls, this study does not support the primary role of this receptor in the pathogenesis of schizophrenia. [ABSTRACT FROM AUTHOR]

Published
2022
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50. The effect of AUT00206, a Kv3 potassium channel modulator, on dopamine synthesis capacity and the reliability of [18F]-FDOPA imaging in schizophrenia.

Author

Angelescu, Ilinca, Kaar, Stephen J, Marques, Tiago Reis, Borgan, Faith, Veronesse, Mattia, Sharman, Alice, Sajjala, Anil, Deakin, Bill, Hutchison, John, Large, Charles, and Howes, Oliver D

Abstract

Background: Current treatments for schizophrenia act directly on dopamine (DA) receptors but are ineffective for many patients, highlighting the need to develop new treatment approaches. Striatal DA dysfunction, indexed using [18F]-FDOPA imaging, is linked to the pathoetiology of schizophrenia. We evaluated the effect of a novel drug, AUT00206, a Kv3.1/3.2 potassium channel modulator, on dopaminergic function in schizophrenia and its relationship with symptom change. Additionally, we investigated the test-retest reliability of [18F]-FDOPA PET in schizophrenia to determine its potential as a biomarker for drug discovery.Methods: Twenty patients with schizophrenia received symptom measures and [18F]-FDOPA PET scans, before and after being randomised to AUT00206 or placebo groups for up to 28 days treatment.Results: AUT00206 had no significant effect on DA synthesis capacity. However, there was a correlation between reduction in striatal dopamine synthesis capacity (indexed as Kicer) and reduction in symptoms, in the AUT00206 group (r = 0.58, p = 0.03). This was not observed in the placebo group (r = -0.15, p = 0.75), although the placebo group may have been underpowered to detect an effect. The intraclass correlation coefficients of [18F]-FDOPA indices in the placebo group ranged from 0.83 to 0.93 across striatal regions.Conclusions: The relationship between reduction in DA synthesis capacity and improvement in symptoms in the AUT00206 group provides evidence for a pharmacodynamic effect of the Kv3 channel modulator. The lack of a significant overall reduction in DA synthesis capacity in the AUT00206 group could be due to variability and the low number of subjects in this study. These findings support further investigation of Kv3 channel modulators for schizophrenia treatment. [18F]-FDOPA PET imaging showed very good test-retest reliability in patients with schizophrenia. [ABSTRACT FROM AUTHOR]

Published
2022
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