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1. Distinct Longitudinal Changes in EEG Measures Reflecting Functional Network Disruption in ALS Cognitive Phenotypes

Author

Metzger, Marjorie, Dukic, Stefan, McMackin, Roisin, Giglia, Eileen, Mitchell, Matthew, Bista, Saroj, Costello, Emmet, Peelo, Colm, Tadjine, Yasmine, Sirenko, Vladyslav, McManus, Lara, Buxo, Teresa, Fasano, Antonio, Chipika, Rangariroyashe, Pinto-Grau, Marta, Schuster, Christina, Heverin, Mark, Coffey, Amina, Broderick, Michael, Iyer, Parameswaran M., Mohr, Kieran, Gavin, Brighid, Pender, Niall, Bede, Peter, Muthuraman, Muthuraman, Hardiman, Orla, and Nasseroleslami, Bahman

Published
2025
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3. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Hop, Paul J, Zwamborn, Ramona AJ, de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B, Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M, Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs HP, van Eijk, Kristel R, Kooyman, Maarten, Byrne, Ross P, Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A, Ross, Jay P, Ludolph, Albert C, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine AM, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, and Kraft, Julia

Subjects
Human Genome, Neurodegenerative, Clinical Research, Rare Diseases, Prevention, ALS, Neurosciences, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amyotrophic Lateral Sclerosis, Brain, Cholesterol, Disease Progression, Female, Genome-Wide Association Study, Glutamine, Humans, Male, Mendelian Randomization Analysis, Microsatellite Repeats, Mutation, Neurodegenerative Diseases, Neurons, Quantitative Trait Loci, RNA-Seq, Risk Factors, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.

Published
2021

8. Serum heat shock protein concentrations are not associated with amyotrophic lateral sclerosis risk or survival in three European populations.

Author

Rooney, James P. K., Geoghegan, Grainne, O'Reilly, Fiona, Heverin, Mark, Bose-O'Reilly, Stephan, Casale, Federico, Chio, Adriano, Günther, Kornelia, Schuster, Joachim, Klopstock, Thomas, Ludolph, Albert, Hardiman, Orla, and Rakete, Stefan

Subjects
HEAT shock proteins, AMYOTROPHIC lateral sclerosis, PROPORTIONAL hazards models, ENZYME-linked immunosorbent assay, LOGISTIC regression analysis
Abstract

Introduction: Serum heat shock protein (HSP) concentrations have been reported as potential biomarkers for amyotrophic lateral sclerosis (ALS). Here, we investigate the role of serum HSP70, HSP90, and DNAJC7 as biomarkers for ALS. Methods: Serum samples were collected from ALS patients and volunteer controls from three different clinical cohorts (in Germany, Ireland, and Italy). Serum HSP concentrations were determined using enzyme-linked immunosorbent assay. Descriptive statistics, generalized logistic regression, and Cox proportional hazards models were used to model associations between log serum HSP concentrations and ALS risk. Results: In total, 251 ALS patients and 184 healthy volunteers were included. Logistic regression models failed to find associations between ALS risk and log serum concentration of HSP70 (OR 0.43, 95% CI: 0.10–1.78, p = 0.242), HSP90 (OR 0.95, 95% CI: 0.39–2.37, p = 0.904), or DNAJC7 (OR 1.55, 95% CI: 0.90–2.68, p = 0.118). Survival of ALS patients was not associated with log serum concentration of HSP HSP70 (HR1.06, 95% CI: 0.36–3.14, p = 0.916), HSP90 (HR 1.17, 95% CI: 0.67–2.02, p = 0.584), or DNAJC7 (HR 0.83, 95% CI: 0.57–1.21, p = 0.337). Discussion: We did not replicate previous findings that serum HSP70 and HSP90 concentrations were associated with risk of ALS. DNAJC7 was not associated with ALS risk, and there were no obvious longitudinal patterns in log serum concentrations of HSP70, HSP90, or DNAJC7. In addition, serum HSP concentrations were not associated with ALS survival. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Functional network dynamics revealed by EEG microstates reflect cognitive decline in amyotrophic lateral sclerosis

Author

Projectafdeling ALS, Metzger, Marjorie, Dukic, Stefan, McMackin, Roisin, Giglia, Eileen, Mitchell, Matthew, Bista, Saroj, Costello, Emmet, Peelo, Colm, Tadjine, Yasmine, Sirenko, Vladyslav, Plaitano, Serena, Coffey, Amina, McManus, Lara, Farnell Sharp, Adelais, Mehra, Prabhav, Heverin, Mark, Bede, Peter, Muthuraman, Muthuraman, Pender, Niall, Hardiman, Orla, Nasseroleslami, Bahman, Projectafdeling ALS, Metzger, Marjorie, Dukic, Stefan, McMackin, Roisin, Giglia, Eileen, Mitchell, Matthew, Bista, Saroj, Costello, Emmet, Peelo, Colm, Tadjine, Yasmine, Sirenko, Vladyslav, Plaitano, Serena, Coffey, Amina, McManus, Lara, Farnell Sharp, Adelais, Mehra, Prabhav, Heverin, Mark, Bede, Peter, Muthuraman, Muthuraman, Pender, Niall, Hardiman, Orla, and Nasseroleslami, Bahman

Published
2024

12. Electroencephalographic β‐band oscillations in the sensorimotor network reflect motor symptom severity in amyotrophic lateral sclerosis

Author

Dukic, Stefan, primary, Fasano, Antonio, additional, Coffey, Amina, additional, Buxó, Teresa, additional, McMackin, Roisin, additional, Chipika, Rangariroyashe, additional, Heverin, Mark, additional, Bede, Peter, additional, Muthuraman, Muthuraman, additional, Lowery, Madeleine, additional, Carson, Richard G., additional, Hardiman, Orla, additional, and Nasseroleslami, Bahman, additional

Published
2024
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13. Distinct longitudinal changes in EEG measures reflecting functional network disruption in ALS cognitive phenotypes

Author

Metzger, Marjorie, primary, Dukic, Stefan, additional, McMackin, Roisin, additional, Giglia, Eileen, additional, Mitchell, Matthew, additional, Bista, Saroj, additional, Costello, Emmet, additional, Peelo, Colm, additional, Tadjine, Yasmine, additional, Sirenko, Vladyslav, additional, McManus, Lara, additional, Buxo, Teresa, additional, Fasano, Antonio, additional, Chipika, Rangariroyashe, additional, Pinto-Grau, Marta, additional, Schuster, Christina, additional, Heverin, Mark, additional, Coffey, Amina, additional, Broderick, Michael, additional, Iyer, Parameswaran M., additional, Mohr, Kieran, additional, Gavin, Brighid, additional, Pender, Niall, additional, Bede, Peter, additional, Muthuraman, Muthuraman, additional, Hardiman, Orla, additional, and Nasseroleslami, Bahman, additional

Published
2024
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14. Incidence of amyotrophic lateral sclerosis in Chile.

Author

Lillo, Patricia, Zitko, Pedro, Godoy-Reyes, Gladys, Asenjo, Gabriela, Sáez, David, Cea, Gonzalo, Navarrete, Pamela, Valenzuela, Daniel, Hughes, Ricardo, Heverin, Mark, Logroscino, Giancarlo, and Hardiman, Orla

Subjects
AMYOTROPHIC lateral sclerosis, LATIN American studies, SURVIVAL rate, AGE groups, SURVIVAL analysis (Biometry)
Abstract

This study aimed to estimate amyotrophic lateral sclerosis (ALS) incidence and survival rates in the Metropolitan region of Chile. We conducted a cohort study of ALS cases in the Metropolitan Region from 2016 to 2019. A total of 219 ALS patients were recruited from Corporación ELA-Chile registry, in collaboration with neurologists from Sociedad de Neurología, Psiquiatría y Neurocirugía de Chile. We calculated incidence rates by sex and age and determined median survival from onset and diagnosis. Survival analysis used the Kaplan–Meier statistic, estimating hazard ratios for age, sex, time from symptom onset and from diagnosis using a Weibull regression model. All analyses were done using R 4.1.0. Overall, ALS diagnosis incidence was 0.97 cases per 100,000 inhabitants, peaking in the 70–79 age group and declining thereafter. The male-to-female ratio was 1.23. The median time to death from diagnosis was 2.3 years (95% confidence interval [CI]: 1.9–2.5), and from the first symptom, it was 3.1 years (95% CI: 2.8–3.5). This is the first population-based study reporting ALS incidence and survival rates in Chile's Metropolitan region. Incidence resembled other Latin American studies. Median survival from diagnosis and from the first symptom were in line with previous findings. Our results corroborated lower ALS rates in Latin America, consistent with prior research. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Functional network dynamics revealed by EEG microstates reflect cognitive decline in amyotrophic lateral sclerosis

Author

Metzger, Marjorie, primary, Dukic, Stefan, additional, McMackin, Roisin, additional, Giglia, Eileen, additional, Mitchell, Matthew, additional, Bista, Saroj, additional, Costello, Emmet, additional, Peelo, Colm, additional, Tadjine, Yasmine, additional, Sirenko, Vladyslav, additional, Plaitano, Serena, additional, Coffey, Amina, additional, McManus, Lara, additional, Farnell Sharp, Adelais, additional, Mehra, Prabhav, additional, Heverin, Mark, additional, Bede, Peter, additional, Muthuraman, Muthuraman, additional, Pender, Niall, additional, Hardiman, Orla, additional, and Nasseroleslami, Bahman, additional

Published
2023
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19. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

Author

Westeneng, Henk-Jan, Debray, Thomas P A, Visser, Anne E, van Eijk, Ruben P A, Rooney, James P K, Calvo, Andrea, Martin, Sarah, McDermott, Christopher J, Thompson, Alexander G, Pinto, Susana, Kobeleva, Xenia, Rosenbohm, Angela, Stubendorff, Beatrice, Sommer, Helma, Middelkoop, Bas M, Dekker, Annelot M, van Vugt, Joke J F A, van Rheenen, Wouter, Vajda, Alice, Heverin, Mark, Kazoka, Mbombe, Hollinger, Hannah, Gromicho, Marta, Körner, Sonja, Ringer, Thomas M, Rödiger, Annekathrin, Gunkel, Anne, Shaw, Christopher E, Bredenoord, Annelien L, van Es, Michael A, Corcia, Philippe, Couratier, Philippe, Weber, Markus, Grosskreutz, Julian, Ludolph, Albert C, Petri, Susanne, de Carvalho, Mamede, Van Damme, Philip, Talbot, Kevin, Turner, Martin R, Shaw, Pamela J, Al-Chalabi, Ammar, Chiò, Adriano, Hardiman, Orla, Moons, Karel G M, Veldink, Jan H, and van den Berg, Leonard H

Published
2018
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21. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Jr., Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.

Published
2022
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29. PRECISION ALS-an integrated pan European patient data platform for ALS

Author

Neurologen, Projectafdeling ALS, Brain, Regenerative Medicine and Stem Cells, McFarlane, Robert, Galvin, Miriam, Heverin, Mark, Mac Domhnaill, Éanna, Murray, Deirdre, Meldrum, Dara, Bede, Peter, Bolger, Anthony, Hederman, Lucy, Impey, Sinéad, Stephens, Gaye, O'Meara, Ciara, Wade, Vincent, Al-Chalabi, Ammar, Chiò, Adriano, Corcia, Phillippe, van Damme, Philip, Ingre, Caroline, McDermott, Christopher, Povedanos, Monica, van den Berg, Leonard, Hardiman, Orla, Neurologen, Projectafdeling ALS, Brain, Regenerative Medicine and Stem Cells, McFarlane, Robert, Galvin, Miriam, Heverin, Mark, Mac Domhnaill, Éanna, Murray, Deirdre, Meldrum, Dara, Bede, Peter, Bolger, Anthony, Hederman, Lucy, Impey, Sinéad, Stephens, Gaye, O'Meara, Ciara, Wade, Vincent, Al-Chalabi, Ammar, Chiò, Adriano, Corcia, Phillippe, van Damme, Philip, Ingre, Caroline, McDermott, Christopher, Povedanos, Monica, van den Berg, Leonard, and Hardiman, Orla

Published
2023

30. LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America.

Author

Vélez-GóMEZ, Beatriz, Perna, Abayuba, Vazquez, Cristina, Ketzoian, Carlos, Lillo, Patricia, Godoy-Reyes, Gladys, Sáez, David, Zaldivar Vaillant, Tatiana, Gutiérrez Gil, Joel Víctor, Lara-Fernández, Gloria Esther, Povedano, Mónica, Heverin, Mark, McFarlane, Robert, Logroscino, Giancarlo, and Hardiman, Orla

Subjects
AMYOTROPHIC lateral sclerosis, SPANISH language, SURVIVAL rate, AGE of onset, DATABASES
Abstract

The Latin American Epidemiologic study of ALS (LAENALS) aims to gather data on ALS epidemiology, phenotype, and risk factors in Cuba, Chile, and Uruguay, to understand the impact of genetic and environmental factors on ALS. A harmonized data collection protocol was generated, and a Latin-American Spanish language Register was constructed. Patient data were collected in Uruguay in 2018, in Chile from 2017 to 2019, and in Cuba between 2017 and 2018. Statistical analysis was performed using SPSS 25.0.0 software. Crude cumulative incidence, standardized incidence, and prevalence were calculated in the population aged 15 years and older. During 2017-2019, 90 people with ALS from Uruguay (55.6% men), 219 from Chile (54.6% men), and 49 from Cuba (55.1% men) were included. The cumulative crude incidence in 2018 was 1.73/100,000 persons in Uruguay, 1.08 in Chile and 0.195 in Cuba. Crude prevalence in 2018 was 2.19 per 100,000 persons in Uruguay, 1.39 in Chile and 0.55 in Cuba. Mean age at onset was 61.8 ± 11.96 SD years in Uruguay, 61.9 ± 10.4 SD years in Chile, and 60.21 ± 12.45 SD years in Cuba (p = 0.75). Median survival from onset was 32.43 months (21.93 − 42.36) in Uruguay, 24 months (13.5 − 33.5) in Chile, and 29 months (15 − 42.5) in Cuba (p = 0.006). These preliminary data from LAENALS confirm the lower incidence and prevalence of ALS in counties with admixed populations. The LAENALS database is now open to other Latin American countries for harmonized prospective data collection. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Functional network dynamics revealed by EEG microstates reflect cognitive decline in amyotrophic lateral sclerosis.

Author

Metzger, Marjorie, Dukic, Stefan, McMackin, Roisin, Giglia, Eileen, Mitchell, Matthew, Bista, Saroj, Costello, Emmet, Peelo, Colm, Tadjine, Yasmine, Sirenko, Vladyslav, Plaitano, Serena, Coffey, Amina, McManus, Lara, Farnell Sharp, Adelais, Mehra, Prabhav, Heverin, Mark, Bede, Peter, Muthuraman, Muthuraman, Pender, Niall, and Hardiman, Orla

Subjects
AMYOTROPHIC lateral sclerosis, COGNITION disorders, ELECTROENCEPHALOGRAPHY, K-means clustering, LARGE-scale brain networks, EPILEPSY
Abstract

Recent electroencephalography (EEG) studies have shown that patterns of brain activity can be used to differentiate amyotrophic lateral sclerosis (ALS) and control groups. These differences can be interrogated by examining EEG microstates, which are distinct, reoccurring topographies of the scalp's electrical potentials. Quantifying the temporal properties of the four canonical microstates can elucidate how the dynamics of functional brain networks are altered in neurological conditions. Here we have analysed the properties of microstates to detect and quantify signal‐based abnormality in ALS. High‐density resting‐state EEG data from 129 people with ALS and 78 HC were recorded longitudinally over a 24‐month period. EEG topographies were extracted at instances of peak global field power to identify four microstate classes (labelled A‐D) using K‐means clustering. Each EEG topography was retrospectively associated with a microstate class based on global map dissimilarity. Changes in microstate properties over the course of the disease were assessed in people with ALS and compared with changes in clinical scores. The topographies of microstate classes remained consistent across participants and conditions. Differences were observed in coverage, occurrence, duration, and transition probabilities between ALS and control groups. The duration of microstate class B and coverage of microstate class C correlated with lower limb functional decline. The transition probabilities A to D, C to B and C to B also correlated with cognitive decline (total ECAS) in those with cognitive and behavioural impairments. Microstate characteristics also significantly changed over the course of the disease. Examining the temporal dependencies in the sequences of microstates revealed that the symmetry and stationarity of transition matrices were increased in people with late‐stage ALS. These alterations in the properties of EEG microstates in ALS may reflect abnormalities within the sensory network and higher‐order networks. Microstate properties could also prospectively predict symptom progression in those with cognitive impairments. [ABSTRACT FROM AUTHOR]

Published
2024
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32. PRECISION ALS—an integrated pan European patient data platform for ALS

Author

McFarlane, Robert, primary, Galvin, Miriam, additional, Heverin, Mark, additional, Mac Domhnaill, Éanna, additional, Murray, Deirdre, additional, Meldrum, Dara, additional, Bede, Peter, additional, Bolger, Anthony, additional, Hederman, Lucy, additional, Impey, Sinéad, additional, Stephens, Gaye, additional, O’Meara, Ciara, additional, Wade, Vincent, additional, Al Chalabi, Ammar, additional, Chiò, Adriano, additional, Corcia, Phillippe, additional, van Damme, Philip, additional, Ingre, Caroline, additional, McDermott, Christopher, additional, Povedanos, Monica, additional, van den Berg, Leonard, additional, and Hardiman, Orla, additional

Published
2023
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33. Cognitive and neuropsychiatric endophenotypes in amyotrophic lateral sclerosis

Author

Costello, Emmet, primary, Ryan, Marie, additional, Donohoe, Bronagh, additional, Kavanagh, Caoimhe, additional, Pinto-Grau, Marta, additional, Doherty, Mark, additional, McLaughlin, Russell Lewis, additional, McHutchison, Caroline, additional, Abrahams, Sharon, additional, Heverin, Mark, additional, Hardiman, Orla, additional, and Pender, Niall, additional

Published
2023
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34. Cortico-muscular coherence in primary lateral sclerosis reveals abnormal cortical engagement during motor function beyond primary motor areas

Author

Bista, Saroj, primary, Coffey, Amina, additional, Fasano, Antonio, additional, Buxo, Teresa, additional, Mitchell, Matthew, additional, Giglia, Eileen Rose, additional, Dukic, Stefan, additional, Heverin, Mark, additional, Muthuraman, Muthuraman, additional, Carson, Richard G, additional, Lowery, Madeleine, additional, Hardiman, Orla, additional, McManus, Lara, additional, and Nasseroleslami, Bahman, additional

Published
2023
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38. Equivalency and practice effects of alternative versions of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS)

Author

Costello, Emmet, Lonergan, Katie, Madden, Caoifa, O’Sullivan, Meadhbh, Mays, Iain, Heverin, Mark, Pinto-Grau, Marta, Hardiman, Orla, and Pender, Niall

Abstract

To examine the equivalency of ECAS versions A, B, and C in an Irish cohort, and to examine potential practice effects, 236 healthy controls were recruited through the Irish ALS control database. One hundred and seventy-six (176) controls completed ECAS version A, B, or C. Separately, 60 controls completed all three versions (A–B–C), consecutively, four months apart. TOST analysis found that ECAS A was equivalent to ECAS B and C. ECAS B and C were not statistically equivalent, however the difference between them was minimal. Participants showed improvement in ECAS performance over time, indicative of practice effects. Significant improvement was observed from time 1 to 2, but not from time 2 to 3. We propose Irish specific reliable change index (RCI) scores that take into consideration practice effects and measurement error. These thresholds will help quantify clinically meaningful cognitive decline in ALS patients, leading to improved quality of care.

Published
2023
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40. Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

Author

Al-Chalabi, Ammar, Calvo, Andrea, Chio, Adriano, Colville, Shuna, Ellis, Cathy M, Hardiman, Orla, Heverin, Mark, Howard, Robin S, Huisman, Mark H B, Keren, Noa, Leigh, P Nigel, Mazzini, Letizia, Mora, Gabriele, Orrell, Richard W, Rooney, James, Scott, Kirsten M, Scotton, William J, Seelen, Meinie, Shaw, Christopher E, Sidle, Katie S, Swingler, Robert, Tsuda, Miho, Veldink, Jan H, Visser, Anne E, van den Berg, Leonard H, and Pearce, Neil

Published
2014
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47. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

Author

Byrne, Susan, Elamin, Marwa, Bede, Peter, Shatunov, Aleksey, Walsh, Cathal, Corr, Bernie, Heverin, Mark, Jordan, Norah, Kenna, Kevin, Lynch, Catherine, McLaughlin, Russell L, Iyer, Parameswaran Mahadeva, O'Brien, Caoimhe, Phukan, Julie, Wynne, Brona, Bokde, Arun L, Bradley, Daniel G, Pender, Niall, Al-Chalabi, Ammar, and Hardiman, Orla

Published
2012
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48. TDC Tools: streamlining information retrieval applications thanks to a tabular Document-Concept representation of the biomedical literature

Author

Moreau, Erwan, Hardiman, Orla, Heverin, Mark, O'Sullivan, Declan, and Moreau, Erwan

Subjects
literature-based discovery, bioinformatics, [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]
Abstract

Motivation: Several methods can be used to obtain the content of the biomedical literature articles annotated with standardized concepts. Various information retrieval (IR) applications exploit these resources, e.g. Literature-Based Discovery (LBD). Such applications often require a complex processing pipeline to transform the raw literature into an appropriate structured representation. Results: TDC Tools offer an intermediate level of representation aimed to facilitate the design and implementation of IR systems exploiting a concept-based view of the literature. Conceptually this intermediate representation decouples the data extraction part from the task-specific exploitation part, thus improving the modularity, interoperability and ultimately the reusability of such systems. Availability: The software and its dependencies are published under open-source license and provided with detailed instructions: https://github.com/erwanm/tdc-tools.

Published
2022
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49. Burden and benefit-A mixed methods study of informal Amyotrophic Lateral Sclerosis caregivers in Ireland and the Netherlands

Author

Revalidatiegeneeskunde Onderzoek, Child Health, Neurologen, Projectafdeling ALS, Brain, Regenerative Medicine and Stem Cells, Kennedy, Polly, Conroy, Éilís, Heverin, Mark, Leroi, Iracema, Beelen, Anita, van den Berg, Leonard, Hardiman, Orla, Galvin, Miriam, Revalidatiegeneeskunde Onderzoek, Child Health, Neurologen, Projectafdeling ALS, Brain, Regenerative Medicine and Stem Cells, Kennedy, Polly, Conroy, Éilís, Heverin, Mark, Leroi, Iracema, Beelen, Anita, van den Berg, Leonard, Hardiman, Orla, and Galvin, Miriam

Published
2022

50. Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis

Author

Projectafdeling ALS, Neurologen, Brain, Regenerative Medicine and Stem Cells, Dukic, Stefan, McMackin, Roisin, Costello, Emmet, Metzger, Marjorie, Buxo, Teresa, Fasano, Antonio, Chipika, Rangariroyashe, Pinto-Grau, Marta, Schuster, Christina, Hammond, Michaela, Heverin, Mark, Coffey, Amina, Broderick, Michael, Iyer, Parameswaran M, Mohr, Kieran, Gavin, Brighid, McLaughlin, Russell, Pender, Niall, Bede, Peter, Muthuraman, Muthuraman, van den Berg, Leonard, Hardiman, Orla, Nasseroleslami, Bahman, Projectafdeling ALS, Neurologen, Brain, Regenerative Medicine and Stem Cells, Dukic, Stefan, McMackin, Roisin, Costello, Emmet, Metzger, Marjorie, Buxo, Teresa, Fasano, Antonio, Chipika, Rangariroyashe, Pinto-Grau, Marta, Schuster, Christina, Hammond, Michaela, Heverin, Mark, Coffey, Amina, Broderick, Michael, Iyer, Parameswaran M, Mohr, Kieran, Gavin, Brighid, McLaughlin, Russell, Pender, Niall, Bede, Peter, Muthuraman, Muthuraman, van den Berg, Leonard, Hardiman, Orla, and Nasseroleslami, Bahman

Published
2022

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