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5. Intelligent Disease Progression Prediction: Overview of iDPP@CLEF 2024

Author

Birolo, Giovanni, Bosoni, Pietro, Faggioli, Guglielmo, Aidos, Helena, Bergamaschi, Roberto, Cavalla, Paola, Chiò, Adriano, Dagliati, Arianna, de Carvalho, Mamede, Di Nunzio, Giorgio Maria, Fariselli, Piero, Dominguez, Jose Manuel García, Gromicho, Marta, Guazzo, Alessandro, Longato, Enrico, Madeira, Sara C., Manera, Umberto, Marchesin, Stefano, Menotti, Laura, Silvello, Gianmaria, Tavazzi, Eleonora, Tavazzi, Erica, Trescato, Isotta, Vettoretti, Martina, Di Camillo, Barbara, Ferro, Nicola, Goos, Gerhard, Series Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Goeuriot, Lorraine, editor, Mulhem, Philippe, editor, Quénot, Georges, editor, Schwab, Didier, editor, Di Nunzio, Giorgio Maria, editor, Soulier, Laure, editor, Galuščáková, Petra, editor, García Seco de Herrera, Alba, editor, Faggioli, Guglielmo, editor, and Ferro, Nicola, editor

Published
2024
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6. iDPP@CLEF 2024: The Intelligent Disease Progression Prediction Challenge

Author

Aidos, Helena, Bergamaschi, Roberto, Cavalla, Paola, Chiò, Adriano, Dagliati, Arianna, Di Camillo, Barbara, de Carvalho, Mamede Alves, Ferro, Nicola, Fariselli, Piero, Dominguez, Jose Manuel García, Madeira, Sara C., Tavazzi, Eleonora, Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Goharian, Nazli, editor, Tonellotto, Nicola, editor, He, Yulan, editor, Lipani, Aldo, editor, McDonald, Graham, editor, Macdonald, Craig, editor, and Ounis, Iadh, editor

Published
2024
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12. Intelligent Disease Progression Prediction: Overview of iDPP@CLEF 2023

Author

Faggioli, Guglielmo, Guazzo, Alessandro, Marchesin, Stefano, Menotti, Laura, Trescato, Isotta, Aidos, Helena, Bergamaschi, Roberto, Birolo, Giovanni, Cavalla, Paola, Chiò, Adriano, Dagliati, Arianna, de Carvalho, Mamede, Di Nunzio, Giorgio Maria, Fariselli, Piero, García Dominguez, Jose Manuel, Gromicho, Marta, Longato, Enrico, Madeira, Sara C., Manera, Umberto, Silvello, Gianmaria, Tavazzi, Eleonora, Tavazzi, Erica, Vettoretti, Martina, Di Camillo, Barbara, Ferro, Nicola, Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Arampatzis, Avi, editor, Kanoulas, Evangelos, editor, Tsikrika, Theodora, editor, Vrochidis, Stefanos, editor, Giachanou, Anastasia, editor, Li, Dan, editor, Aliannejadi, Mohammad, editor, Vlachos, Michalis, editor, Faggioli, Guglielmo, editor, and Ferro, Nicola, editor

Published
2023
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13. iDPP@CLEF 2023: The Intelligent Disease Progression Prediction Challenge

Author

Aidos, Helena, Bergamaschi, Roberto, Cavalla, Paola, Chiò, Adriano, Dagliati, Arianna, Di Camillo, Barbara, de Carvalho, Mamede Alves, Ferro, Nicola, Fariselli, Piero, Dominguez, Jose Manuel García, Madeira, Sara C., Tavazzi, Eleonora, Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Kamps, Jaap, editor, Goeuriot, Lorraine, editor, Crestani, Fabio, editor, Maistro, Maria, editor, Joho, Hideo, editor, Davis, Brian, editor, Gurrin, Cathal, editor, Kruschwitz, Udo, editor, and Caputo, Annalina, editor

Published
2023
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17. Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: A systematic review

Author

Tavazzi, Erica, Longato, Enrico, Vettoretti, Martina, Aidos, Helena, Trescato, Isotta, Roversi, Chiara, Martins, Andreia S., Castanho, Eduardo N., Branco, Ruben, Soares, Diogo F., Guazzo, Alessandro, Birolo, Giovanni, Pala, Daniele, Bosoni, Pietro, Chiò, Adriano, Manera, Umberto, de Carvalho, Mamede, Miranda, Bruno, Gromicho, Marta, Alves, Inês, Bellazzi, Riccardo, Dagliati, Arianna, Fariselli, Piero, Madeira, Sara C., and Di Camillo, Barbara

Published
2023
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19. Predicting assisted ventilation in Amyotrophic Lateral Sclerosis using a mixture of experts and conformal predictors

Author

Pereira, Telma, Pires, Sofia, Gromicho, Marta, Pinto, Susana, de Carvalho, Mamede, and Madeira, Sara C.

Subjects
Computer Science - Machine Learning, Statistics - Machine Learning
Abstract

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by a rapid motor decline, leading to respiratory failure and subsequently to death. In this context, researchers have sought for models to automatically predict disease progression to assisted ventilation in ALS patients. However, the clinical translation of such models is limited by the lack of insight 1) on the risk of error for predictions at patient-level, and 2) on the most adequate time to administer the non-invasive ventilation. To address these issues, we combine Conformal Prediction (a machine learning framework that complements predictions with confidence measures) and a mixture experts into a prognostic model which not only predicts whether an ALS patient will suffer from respiratory insufficiency but also the most likely time window of occurrence, at a given reliability level. Promising results were obtained, with near 80% of predictions being correctly identified.

Published
2019

20. Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

Author

Tazelaar, Gijs H.P., Hop, Paul J., Seelen, Meinie, van Vugt, Joke J.F.A., van Rheenen, Wouter, Kool, Lindy, van Eijk, Kristel R., Gijzen, Marleen, Dooijes, Dennis, Moisse, Matthieu, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Nordin, Angelica, Pardina, Jesus S. Mora, Ravits, John, Al-Chalabi, Ammar, Chio, Adriano, McLaughlin, Russell L., Hardiman, Orla, Van Damme, Philip, de Carvalho, Mamede, Neuwirth, Christoph, Weber, Markus, Andersen, Peter M, van den Berg, Leonard H., Veldink, Jan H., and van Es, Michael A.

Published
2023
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22. Intelligent Disease Progression Prediction: Overview of iDPP@CLEF 2022

Author

Guazzo, Alessandro, Trescato, Isotta, Longato, Enrico, Hazizaj, Enidia, Dosso, Dennis, Faggioli, Guglielmo, Di Nunzio, Giorgio Maria, Silvello, Gianmaria, Vettoretti, Martina, Tavazzi, Erica, Roversi, Chiara, Fariselli, Piero, Madeira, Sara C., de Carvalho, Mamede, Gromicho, Marta, Chiò, Adriano, Manera, Umberto, Dagliati, Arianna, Birolo, Giovanni, Aidos, Helena, Di Camillo, Barbara, Ferro, Nicola, Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Barrón-Cedeño, Alberto, editor, Da San Martino, Giovanni, editor, Degli Esposti, Mirko, editor, Sebastiani, Fabrizio, editor, Macdonald, Craig, editor, Pasi, Gabriella, editor, Hanbury, Allan, editor, Potthast, Martin, editor, Faggioli, Guglielmo, editor, and Ferro, Nicola, editor

Published
2022
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28. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Author

Al Khleifat, Ahmad, Iacoangeli, Alfredo, van Vugt, Joke J. F. A., Bowles, Harry, Moisse, Matthieu, Zwamborn, Ramona A. J., van der Spek, Rick A. A., Shatunov, Aleksey, Cooper-Knock, Johnathan, Topp, Simon, Byrne, Ross, Gellera, Cinzia, López, Victoria, Jones, Ashley R., Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel R., Kenna, Kevin, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E., Dobson, Richard, van Es, Michael A., McLaughlin, Russell L., Vourc’h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica P., Mora, Jesus S., Shaw, Pamela J., Landers, John E., Glass, Jonathan D., Shaw, Christopher E., Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., and Al-Chalabi, Ammar

Published
2022
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31. Towards Triclustering-Based Classification of Three-Way Clinical Data: A Case Study on Predicting Non-invasive Ventilation in ALS

Author

Soares, Diogo, Henriques, Rui, Gromicho, Marta, Pinto, Susana, de Carvalho, Mamede, Madeira, Sara C., Kacprzyk, Janusz, Series Editor, Pal, Nikhil R., Advisory Editor, Bello Perez, Rafael, Advisory Editor, Corchado, Emilio S., Advisory Editor, Hagras, Hani, Advisory Editor, Kóczy, László T., Advisory Editor, Kreinovich, Vladik, Advisory Editor, Lin, Chin-Teng, Advisory Editor, Lu, Jie, Advisory Editor, Melin, Patricia, Advisory Editor, Nedjah, Nadia, Advisory Editor, Nguyen, Ngoc Thanh, Advisory Editor, Wang, Jun, Advisory Editor, Panuccio, Gabriella, editor, Rocha, Miguel, editor, Fdez-Riverola, Florentino, editor, Mohamad, Mohd Saberi, editor, and Casado-Vara, Roberto, editor

Published
2021
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32. Predictive Medicine Using Interpretable Recurrent Neural Networks

Author

Ferreira, André, Madeira, Sara C., Gromicho, Marta, de Carvalho, Mamede, Vinga, Susana, Carvalho, Alexandra M., Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Woeginger, Gerhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Del Bimbo, Alberto, editor, Cucchiara, Rita, editor, Sclaroff, Stan, editor, Farinella, Giovanni Maria, editor, Mei, Tao, editor, Bertini, Marco, editor, Escalante, Hugo Jair, editor, and Vezzani, Roberto, editor

Published
2021
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35. 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
2021
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38. European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERNEURO‐NMD)

Author

Van Damme, Philip, primary, Al‐Chalabi, Ammar, additional, Andersen, Peter M., additional, Chiò, Adriano, additional, Couratier, Philippe, additional, De Carvalho, Mamede, additional, Hardiman, Orla, additional, Kuźma‐Kozakiewicz, Magdalena, additional, Ludolph, Albert, additional, McDermott, Christopher J., additional, Mora, Jesus S., additional, Petri, Susanne, additional, Probyn, Katrin, additional, Reviers, Evy, additional, Salachas, François, additional, Silani, Vincenzo, additional, Tysnes, Ole‐Bjørn, additional, van den Berg, Leonard H., additional, Villanueva, Gemma, additional, and Weber, Markus, additional

Published
2024
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40. Non-invasive Spinal Cord Stimulation: Relevance of Modelling Studies in Clinical Protocol Design

Author

Fernandes, Sofia Rita, Pereira, Mariana, de Carvalho, Mamede, Miranda, Pedro Cavaleiro, Magjarevic, Ratko, Series Editor, Ładyżyński, Piotr, Associate Editor, Ibrahim, Fatimah, Associate Editor, Lackovic, Igor, Associate Editor, Rock, Emilio Sacristan, Associate Editor, Henriques, Jorge, editor, Neves, Nuno, editor, and de Carvalho, Paulo, editor

Published
2020
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41. Patient Stratification Using Clinical and Patient Profiles: Targeting Personalized Prognostic Prediction in ALS

Author

Pires, Sofia, Gromicho, Marta, Pinto, Susana, de Carvalho, Mamede, Madeira, Sara C., Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Woeginger, Gerhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Rojas, Ignacio, editor, Valenzuela, Olga, editor, Rojas, Fernando, editor, Herrera, Luis Javier, editor, and Ortuño, Francisco, editor

Published
2020
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42. Unravelling Disease Presentation Patterns in ALS Using Biclustering for Discriminative Meta-Features Discovery

Author

Matos, Joana, Pires, Sofia, Aidos, Helena, Gromicho, Marta, Pinto, Susana, de Carvalho, Mamede, Madeira, Sara C., Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Woeginger, Gerhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Rojas, Ignacio, editor, Valenzuela, Olga, editor, Rojas, Fernando, editor, Herrera, Luis Javier, editor, and Ortuño, Francisco, editor

Published
2020
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47. Cognitive reserve as a modulator of cognitive decline and of behavioral symptoms in patients with amyotrophic lateral sclerosis.

Author

Simão, Sara, Oliveira Santos, Miguel, Gromicho, Marta, Pavão Martins, Isabel, and De Carvalho, Mamede

Subjects
AMYOTROPHIC lateral sclerosis, EXECUTIVE function, MULTIPLE regression analysis, NEURODEGENERATION, FRONTOTEMPORAL dementia
Abstract

Introduction: Amyotrophic lateral sclerosis (ALS) has heterogeneous manifestations ranging from motor neuron degeneration to cognitive and behavioral impairment. This study aims to clarify the interactions between cognition and behavioral symptoms with relevant disease predictors and with cognitive reserve (CR), quantified through education, physical activity, and occupation proxies. Methods: A prospective sample of 162 ALS patients and 61 controls were evaluated with the Edinburgh Cognitive and Behavioral ALS Screen (ECAS) (dependent variable), a Cognitive Reserve Index questionnaire (CRIq) and demographic data (age and sex), and, for patients, clinical variables: disease duration, site of onset, the ALS Functional Rating Scale (ALSFRS), forced vital capacity (FVC), and gene mutation chromosome 9 open reading frame 72 (C9orf72) (independent variables). Multiple regression and mediation analyses were performed to predict cognitive and behavioral symptoms. Results: For the ALS group, the statistical model explained 38.8% of variance in ECAS total (p < 0.001), 59.4% of executive functions (p < 0.001), and 55% of behavioral symptoms (p < 0.001). For controls, it accounted for 52.8% of variance in ECAS total (p < 0.001). Interaction effects and mediation analysis showed CR is an ECAS total modulator, with a differential effect within groups (p < 0.001). Verbal fluency was the single best cognitive score to differentiate patients from controls (p = 0.004), and the gene mutation C9orf72 was found to be a behavioral symptom' predictor in patients (p = 0.009). Conclusion: This study supports the proposed concept that CR acts as a cognitive modulator in ALS patients and healthy individuals. Moreover, CR also modulates behavioral manifestations in ALS. [ABSTRACT FROM AUTHOR]

Published
2024
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49. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS

Author

Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M., Başak, Nazli A., Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Dobson, Richard J., Schwab, Patrick, Al-Chalabi, Ammar, Iacoangeli, Alfredo, Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M., Başak, Nazli A., Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Dobson, Richard J., Schwab, Patrick, Al-Chalabi, Ammar, and Iacoangeli, Alfredo

Abstract

Objective: Neurofilament heavy-chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening panels worldwide. We therefore aimed to determine if NEFH variants modify ALS risk. Methods: Genetic data of 11,130 people with ALS and 7,416 controls from the literature and Project MinE were analysed. We performed meta-analyses of published case–control studies reporting NEFH variants, and variant analysis of NEFH in Project MinE whole-genome sequencing data. Results: Fixed-effects meta-analysis found that rare (MAF <1%) missense variants in the tail domain of NEFH increase ALS risk (OR 4.55, 95% CI 2.13–9.71, p < 0.0001). In Project MinE, ultrarare NEFH variants increased ALS risk (OR 1.37 95% CI 1.14–1.63, p = 0.0007), with rod domain variants (mostly intronic) appearing to drive the association (OR 1.45 95% CI 1.18–1.77, pMadsen–Browning = 0.0007, pSKAT-O = 0.003). While in the tail domain, ultrarare (MAF <0.1%) pathogenic missense variants were also associated with higher risk of ALS (OR 1.94, 95% CI 0.86–4.37, pMadsen–Browning = 0.039), supporting the meta-analysis results. Finally, several tail in-frame deletions were also found to affect disease risk, however, both protective and pathogenic deletions were found in this domain, highlighting an intricated architecture that requires further investigation. Interpretation: We showed that NEFH tail missense and in-frame deletion variants, and intronic rod variants are risk factors for ALS. However, they are not variants of large effect, and their functional impact needs to be clarified in further studies. Therefore, their inclusion in routine genetic screening panels should be reconsidered.

Published
2024
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50. European academy of neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European reference network for neuromuscular diseases (ERN EURO-NMD)

Author

Van Damme, Philip, Al-Chalabi, Ammar, Andersen, Peter M., Chiò, Adriano, Couratier, Philippe, De Carvalho, Mamede, Hardiman, Orla, Kuźma-Kozakiewicz, Magdalena, Ludolph, Albert, McDermott, Christopher J., Mora, Jesus S., Petri, Susanne, Probyn, Katrin, Reviers, Evy, Salachas, François, Silani, Vincenzo, Tysnes, Ole-Bjørn, van den Berg, Leonard H., Villanueva, Gemma, Weber, Markus, Van Damme, Philip, Al-Chalabi, Ammar, Andersen, Peter M., Chiò, Adriano, Couratier, Philippe, De Carvalho, Mamede, Hardiman, Orla, Kuźma-Kozakiewicz, Magdalena, Ludolph, Albert, McDermott, Christopher J., Mora, Jesus S., Petri, Susanne, Probyn, Katrin, Reviers, Evy, Salachas, François, Silani, Vincenzo, Tysnes, Ole-Bjørn, van den Berg, Leonard H., Villanueva, Gemma, and Weber, Markus

Abstract

Background: This update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO-NMD) and the support of the European Network for the Cure ALS (ENCALS) and the European Organization for Professionals and Patients with ALS (EUpALS). Methods: Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to assess the effectiveness of interventions for ALS. Two systematic reviewers from Cochrane Response supported the guideline panel. The working group identified a total of 26 research questions, performed systematic reviews, assessed the quality of the available evidence, and made specific recommendations. Expert consensus statements were provided where insufficient evidence was available. Results: A guideline mapping effort revealed only one other ALS guideline that used GRADE methodology (a National Institute for Health and Care Excellence [NICE] guideline). The available evidence was scarce for many research questions. Of the 26 research questions evaluated, the NICE recommendations could be adapted for 8 questions. Other recommendations required updates of existing systematic reviews or de novo reviews. Recommendations were made on currently available disease-modifying treatments, multidisciplinary care, nutritional and respiratory support, communication aids, psychological support, treatments for common ALS symptoms (e.g., muscle cramps, spasticity, pseudobulbar affect, thick mucus, sialorrhea, pain), and end-of-life management. Conclusions: This update of the guideline using GRADE methodology provides a framework for the management of ALS. The treatment landscape is changing rapidly, and further updates will be prepared when additional evidence becomes available.

Published
2024
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