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1. Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition

Author

Huin, Vincent, Blum, David, Delforge, Violette, Cailliau, Emeline, Djeziri, Sofia, Dujardin, Kathy, Genet, Alexandre, Viard, Romain, Attarian, Shahram, Bruneteau, Gaelle, Cassereau, Julien, Genestet, Steeve, Kaminsky, Anne-Laure, Soriani, Marie-Hélène, Lefilliatre, Mathilde, Couratier, Philippe, Pittion-Vouyovitch, Sophie, Esselin, Florence, De La Cruz, Elisa, Guy, Nathalie, Kolev, Ivan, Corcia, Philippe, Cintas, Pascal, Desnuelle, Claude, Buée, Luc, Danel-Brunaud, Véronique, Devos, David, and Rolland, Anne-Sophie

Published
2024
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3. Treatment continuity of amyotrophic lateral sclerosis with available riluzole formulations: state of the art and current challenges in a ‘real-world’ setting.

Author

Corcia, Philippe, Guy, Nathalie, Pradat, Pierre-François, Soriani, Marie-Helene, Verschueren, Annie, and Couratier, Philippe

Subjects
*AMYOTROPHIC lateral sclerosis, *RILUZOLE, *PERCUTANEOUS endoscopic gastrostomy, *CLINICAL trials, *LIVER enzymes, *NEURODEGENERATION
Abstract

AbstractAmyotrophic lateral sclerosis (ALS) is a rare multisystem neurodegenerative disease leading to death due to respiratory failure. Riluzole was the first disease modifying treatment approved in ALS. Randomized clinical trials showed a significant benefit of riluzole on survival in the months following randomization, with a good safety profile. ‘Real-world’ studies suggested that the survival benefit of riluzole is substantially greater, with an extended survival ranging between 6 and 19 months. The main limiting associated adverse effects of riluzole are non-severe gastrointestinal complications and an elevation of liver enzymes, observed in 10% of patients. While different classes of drugs have been approved in some countries, riluzole remains the gold standard of therapy. Dysphagia induced by ALS is a major challenge for food intake and riluzole administration. Tablet crushing is associated with a loss of drug intake and a risk of powder aspiration, which jeopardizes the benefits of riluzole. Riluzole oral suspension (ROS) and oral film (ROF) allow riluzole intake in patients with dysphagia. Both formulations are bioequivalent to riluzole tablets with a good safety profile albeit transient oral hypoaesthesia. In case of severe dysphagia, ROS can be used with percutaneous endoscopic gastrostomy. ROF, the last approved formulation, requires low swallowing capacities and may contribute to maintain the efficacy of riluzole when tablets are inadequate according to patient’s status and/or preferences. To optimize treatment continuity in newly diagnosed patients, the expected psychological impact of formulation switching that may be perceived as the sign of disease progression should be anticipated. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author

Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, Georgios, Appel, Stanley H., Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard, Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Allen, Andrew S., Appel, Stanley, Bedlack, Richard S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, D’Alfonso, Sandra, Corrado, Lucia, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Mazzini, Letizia, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Al Kheifat, Ahmad, Al-Chalabi, Ammar, Andersen, Peter, Basak, A. Nazli, Blair, Ian P., Chio, Adriano, Cooper-Knock, Jonathan, de Carvalho, Mamede, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hardiman, Orla, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Kooyman, Maarten, Landers, John, McLaughlin, Russell, Middelkoop, Bas, Mill, Jonathan, Neto, Miguel Mitne, Moisse, Mattieu, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shatunov, Aleksey, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van der Spek, Rick, van Eijk, Kristel, van Es, Michael, van Rheenen, Wouter, van Vugt, Joke, Veldink, Jan, Weber, Markus, Williams, Kelly L., Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Messina, Sonia, Simone, Isabella L., Ferrucci, Luigi, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Wyman, Stacia K., LeNail, Alex, Van Eyk, Jennifer E., Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L.M.A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Van Eijk, Kristel R., Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Fifita, Jennifer A., Nicholson, Garth A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Rogaeva, Ekaterina, Zinman, Lorne, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Van Damme, Philip, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., Jr., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.

Published
2018
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6. The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations

Author

Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano, On Behalf Of Italsgen Consortium, Null, Canosa, A, Calvo, A, Mora, G, Moglia, C, Brunetti, M, Barberis, M, Borghero, G, Caponnetto, C, Trojsi, F, Spataro, R, Volanti, P, Simone, I, Salvi, F, Logullo, F, Riva, N, Tremolizzo, L, Giannini, F, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Conforti, F, Zollino, M, Sabatelli, M, Tarlarini, C, Lunetta, C, Mazzini, L, D'Alfonso, S, Guy, N, Meininger, V, Clavelou, P, Camu, W, and Chiò, A

Subjects
Settore MED/26 - NEUROLOGIA, HFE, SOD1, amyotrophic lateral sclerosis, p.H63D, survival, Medicine (miscellaneous), amyotrophic lateral sclerosi, Settore MED/03 - GENETICA MEDICA, General Biochemistry, Genetics and Molecular Biology
Abstract

Background: Data from published studies about the effect of HFE polymorphisms on ALS risk, phenotype, and survival are still inconclusive. We aimed at evaluating whether the p.H63D polymorphism is a modifier of phenotype and survival in SOD1-mutated patients. Methods: We included 183 SOD1-mutated ALS patients. Mutations were classified as severe or mild according to the median survival of the study population. Patients were screened for the HFE p.H63D polymorphism. Survival was calculated using the Kaplan–Meier modeling, and differences were measured by the log-rank test. Multivariable analysis was performed with the Cox proportional hazards model (stepwise backward). Results: SOD1 severe mutation carriers show more frequent familial history for ALS and shorter survival compared to mild mutation carriers. Carriers and non-carriers of the p.H63D polymorphism did not differ in terms of sex ratio, frequency of positive familial history, age at onset, and bulbar/spinal ratio. In univariate and in Cox multivariable analysis using sex, age at onset, site of onset, family history, country of origin, and mutation severity as covariates, p.H63D carriers had a longer survival (p = 0.034 and p = 0.004). Conclusions: We found that SOD1-mutated ALS patients carrying the p.H63D HFE polymorphism have a longer survival compared to non-carriers, independently of sex, age and site of onset, family history, nation of origin, and severity of mutations, suggesting a possible role as disease progression modifier for the p.H63D HFE polymorphism in SOD1-ALS.

Published
2023

7. Hemiplegic Migraine Associated With PRRT2 Variations

Author

Riant, Florence, primary, Roos, Caroline, additional, Roubertie, Agathe, additional, Barbance, Cécile, additional, Hadjadj, Jessica, additional, Auvin, Stéphane, additional, Baille, Guillaume, additional, Beltramone, Marion, additional, Boulanger, Cécile, additional, Cahn, Alice, additional, Cata, Florina, additional, Cheuret, Emmanuel, additional, Cuvellier, Jean-Christophe, additional, Defo, Antoine, additional, Demarquay, Genevieve, additional, Donnet, Anne, additional, Gaillard, Nicolas, additional, Massardier, Evelyne, additional, Guy, Nathalie, additional, Lamoureux, Sylvie, additional, Le Moigno, Laurence, additional, Lucas, Christian, additional, Ratiu, Diana, additional, Redon, Sylvain, additional, Rey, Caroline, additional, Thauvin, Christel, additional, Viallet, François, additional, Tournier-Lasserve, Elisabeth, additional, and Ducros, Anne, additional

Published
2022
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10. Effect of familial clustering in the genetic screening of 235 French ALS families

Author

Corcia, Philippe, primary, Camu, William, additional, Brulard, Celine, additional, Marouillat, Sylviane, additional, Couratier, Philippe, additional, Camdessanché, Jean-Philippe, additional, Cintas, Pascal, additional, Verschueren, Annie, additional, Soriani, Marie-Helene, additional, Desnuelle, Claude, additional, Fleury, Marie-Céline, additional, Guy, Nathalie, additional, Cassereau, Julien, additional, Viader, Fausto, additional, Pittion-Vouyovitch, Sophie, additional, Danel, Veronique, additional, Kolev, Ivan, additional, Le Masson, Gwendal, additional, Beltran, Stephane, additional, Salachas, Francois, additional, Bernard, Emilien, additional, Pradat, Pierre-François, additional, Blasco, Hélène, additional, Lanznaster, Débora, additional, Hergesheimer, Rudolph, additional, Laumonnier, Frederic, additional, Andres, Christian R, additional, Meininger, Vincent, additional, and Vourc'h, Patrick, additional

Published
2021
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12. Hemiplegic Migraine Associated With Variations: A Clinical and Genetic Study.

Author

Riant, Florence, Roos, Caroline, Roubertie, Agathe, Barbance, Cécile, Hadjadj, Jessica, Auvin, Stéphane, Baille, Guillaume, Beltramone, Marion, Boulanger, Cécile, Cahn, Alice, Cata, Florina, Cheuret, Emmanuel, Cuvellier, Jean-Christophe, Defo, Antoine, Demarquay, Genevieve, Donnet, Anne, Gaillard, Nicolas, Massardier, Evelyne, Guy, Nathalie, and Lamoureux, Sylvie

Published
2022
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13. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

Author

Millecamps, Stéphanie, Salachas, François, Cazeneuve, Cécile, Gordon, Paul, Bricka, Bernard, Camuzat, Agnès, Guillot-Noël, Léna, Russaouen, Odile, Bruneteau, Gaëlle, Pradat, Pierre-François, Le Forestier, Nadine, Vandenberghe, Nadia, Danel-Brunaud, Véronique, Guy, Nathalie, Thauvin-Robinet, Christel, Lacomblez, Lucette, Couratier, Philippe, Hannequin, Didier, Seilhean, Danielle, Le Ber, Isabelle, Corcia, Philippe, Camu, William, Brice, Alexis, Rouleau, Guy, LeGuern, Eric, and Meininger, Vincent

Published
2010
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14. Implanted Phrenic Stimulation Impairs Local Diaphragm Myofiber Reinnervation in Amyotrophic Lateral Sclerosis

Author

Guimarães-Costa, Raquel, primary, Niérat, Marie-Cécile, additional, Rivals, Isabelle, additional, Morélot-Panzini, Capucine, additional, Romero, Norma Beatriz, additional, Menegaux, Fabrice, additional, Salachas, François, additional, Gonzalez-Bermejo, Jésus, additional, Similowski, Thomas, additional, Bruneteau, Gaëlle, additional, del Mar Amador, Maria, additional, Antoine, Jean Christophe, additional, Arne-Bes, Marie Christine, additional, Attali, Valérie, additional, Beauvais, Katell, additional, Brunaud-Danel, Veronique, additional, Bruneteau, Gaelle, additional, Camdessanche, Jean-Philippe, additional, Camu, William, additional, Carluer, Laurence, additional, Cassereau, Julien, additional, Chapart, Maud, additional, Chenuel, Bruno, additional, Chereau, Nathalie, additional, Cintas, Pascal, additional, Clavelou, Pierre, additional, Corcia, Philippe, additional, Cornette, André, additional, Couratier, Philippe, additional, Court-Fortune, Isabelle, additional, Cuvelier, Antoine, additional, Delclaux, Christophe, additional, Desnuelle, Claude, additional, Di Maria, Sophie, additional, Fargeot, Catherine, additional, Fauroux, Brigitte, additional, Finet-Monnier, Armelle, additional, Fleury, Marie Celine, additional, Gaillat, Carmen, additional, Georges, Marjolaine, additional, Giroud, Maurice, additional, Gonzalez-Bermejo, Jesus, additional, Greil, Annick, additional, Guerrier, Muriel, additional, Guillaume, Nicolas, additional, Guy, Nathalie, additional, Hannequin, Didier, additional, Juillien, Valérie, additional, Juntas-Morales, Raul, additional, Kessler, Romain, additional, Kolev, Yvan, additional, Lagarde, Julien, additional, Lautrette, Geraldine, additional, Le Cam, Pierre, additional, LeForestier, Nadine, additional, Lemasson, Gwendal, additional, Lenglet, Thimothée, additional, Magro, Pascal, additional, Mallart, Anne, additional, Martinaud, Olivier, additional, Meininger, Vincent, additional, Meslier, Nicole, additional, Moirot, Pierre, additional, Morelot-Panzini, Capucine, additional, Nadjar, Yann, additional, Niel-Duriez, Myriam, additional, Nierat, Marie-Cecile, additional, Noullet, Severine, additional, Pageot, Nicolas, additional, Perez, Thierry, additional, Perrin, Christophe, additional, Pillet, Odile, additional, Pittion, Sophie, additional, Pouget, Jean, additional, Pradat, Pierre-François, additional, Prigent, Hélène, additional, Rabec, Claudio, additional, Ricard, Jean-Damien, additional, Romero, Norma, additional, Royer, Catherine, additional, Schaup, Barbara, additional, Sedkaoui, Kamila, additional, Soriani, Marie-Hélène, additional, Straus, Christian, additional, Tanguy, Marie-Laure, additional, Tranchant, Christine, additional, Vandenberghue, Nadia, additional, Vershueren, Annie, additional, Viader, Fausto, additional, and Wienalek-Bachelet, Anne-Cecile, additional

Published
2019
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19. Early diaphragm pacing in patients with amyotrophic lateral sclerosis (RespiStimALS): a randomised controlled triple-blind trial

Author

Gonzalez-Bermejo, Jésus, primary, Morélot-Panzini, Capucine, additional, Tanguy, Marie-Laure, additional, Meininger, Vincent, additional, Pradat, Pierre-François, additional, Lenglet, Timothée, additional, Bruneteau, Gaëlle, additional, Forestier, Nadine Le, additional, Couratier, Philippe, additional, Guy, Nathalie, additional, Desnuelle, Claude, additional, Prigent, Hélène, additional, Perrin, Christophe, additional, Attali, Valérie, additional, Fargeot, Catherine, additional, Nierat, Marie-Cécile, additional, Royer, Catherine, additional, Ménégaux, Fabrice, additional, Salachas, François, additional, and Similowski, Thomas, additional

Published
2016
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20. Early diaphragm pacing to delay non-invasive ventilation in patients with amyotrophic lateral sclerosis (RespiStimALS): A multicenter, triple-blind, randomized controlled trial

Author

Gonzalez Bermejo, Jesus, primary, Morelot-Panzini, Capucine, additional, Marie Laure, Tanguy, additional, Meininger, Vincent, additional, Couratier, Philippe, additional, Guy, Nathalie, additional, Desnuelle, Claude, additional, Prigent, Hélène, additional, Perrin, Christophe, additional, Attali, Valérie, additional, Marie-Cecile, Nierat, additional, Salachas, Francois, additional, and Similowski, Thomas, additional

Published
2016
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21. Medication overuse reinstates conditioned pain modulation in women with migraine.

Author

Guy, Nathalie, Voisin, Daniel, Mulliez, Aurélien, Clavelou, Pierre, and Dallel, Radhouane

Subjects
*DRUG overdose, *HEADACHE treatment, *EVOKED potentials (Electrophysiology), *DISEASES in women, *PAIN management, *EPISODIC memory
Abstract

Background This study investigated the effects of medication overuse and withdrawal on modulation of pain processing in women with migraine. Temporal summation of laser-evoked thermal pain was used to measure the effects of conditioned pain modulation. Methods 36 female participants (12 healthy volunteers, 12 with episodic migraine and 12 with medication overuse headache) were included in a two session protocol. Medication overuse headache subjects were also tested three weeks after medication overuse headache withdrawal. Mechanical and laser-evoked thermal pain thresholds were measured on the back of the non-dominant hand where, later, temporal summation of laser-evoked thermal pain to repetitive thermal stimuli was elicited for 30 min, at an intensity producing moderate pain. Between the 10th and 20th minutes, the contralateral foot was immersed into a water bath at a not painful (30℃) or painfully cold (8℃; conditioned pain modulation) temperature. Results Episodic migraine, medication overuse headache and medication overuse headache withdrawal were associated with an increase in extracephalic temporal summation of laser-evoked thermal pain as compared to healthy volunteer subjects, while there was no alteration of laser-evoked thermal and mechanical extracephalic pain thresholds in these subjects. Conditioned pain modulation was highly efficient in temporal summation of laser-evoked thermal pain in healthy volunteer subjects, with a solid post-effect (reduction of pain). Conditioned pain modulation was still present, but reduced, in episodic migraine. By contrast, conditioned pain modulation was normal in medication overuse headache and strongly reduced in medication overuse headache withdrawal. Furthermore, in medication overuse headache withdrawal, the post-effect was no longer a decrease, but a facilitation of pain. Conclusions These data show that a decrease in conditioned pain modulation does not underlie medication overuse headache in women. On the contrary, medication overuse reinstated conditioned pain modulation in female migraine patients. They also identify different phenotypes of pain modulation in migraine patients. Registration number N° 2008-A00471-54. [ABSTRACT FROM AUTHOR]

Published
2018
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23. FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis

Author

Broustal, Oriane, Camuzat, Agnès, Guillot-Noël, Lena, Guy, Nathalie, Millecamps, Stéphanie, Deffond, Didier, Lacomblez, Lucette, Golfier, Véronique, Hannequin, Didier, Salachas, François, Camu, William, Didic, Mira, Dubois, Bruno, Meininger, Vincent, Le Ber, Isabelle, Brice, Alexis, Clinical And Genetic Research Network On Ftd/ftd-Mnd, French, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuro-Dol (Neuro-Dol), Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'Imagerie Fonctionnelle (LIF), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-IFR49-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de neurologie et de neuropsychologie, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Neuroépidémiologie Tropicale et Comparée (NETEC), Université de Limoges (UNILIM)-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Fédération des Maladies du Système Nerveux, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Université de Limoges (UNILIM), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Grelier, Elisabeth

Subjects
Male, MESH: Pedigree, Mutation, Missense, MESH: Phenotype, mental disorders, Humans, MESH: Amyotrophic Lateral Sclerosis, Aged, MESH: Aged, MESH: Mutation, Missense, MESH: Humans, MESH: Middle Aged, MESH: RNA-Binding Protein FUS, Amyotrophic Lateral Sclerosis, nutritional and metabolic diseases, Middle Aged, MESH: Male, Pedigree, nervous system diseases, Phenotype, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, RNA-Binding Protein FUS, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Frontotemporal Lobar Degeneration, Frontotemporal Lobar Degeneration, MESH: Female
Abstract

International audience; Rapid advances were made in the knowledge of amyotrophic lateral sclerosis (ALS) with the recent identification of TARDBP and FUS mutations in familial ALS. More recently, FUS-positive inclusions were found in a subset of TDP-43-negative frontotemporal lobar degeneration (FTLD) prompting us to analyze FUS in FTLD and FTLD-ALS patients. The p.Arg521His mutation was identified in a patient who initially had behavioral disorders and rapidly developed ALS. Although the frequency of mutations is low, our study enlarges the phenotypes associated with FUS mutations and shows that FUS could also play a direct pathogenic role in FTLD spectrum of diseases.

Published
2010

28. Safety of home parenteral nutrition in patients with amyotrophic lateral sclerosis: A French national survey

Author

Abdelnour-Mallet, Maya, primary, Verschueren, Annie, additional, Guy, Nathalie, additional, Soriani, Marie-Hélène, additional, Chalbi, Myriam, additional, Gordon, Paul, additional, Salachas, François, additional, Bruneteau, Gaelle, additional, le Forestier, Nadine, additional, Lenglet, Timothée, additional, Desnuelle, Claude, additional, Clavelou, Pierre, additional, Pouget, Jean, additional, Meininger, Vincent, additional, and Pradat, Pierre-François, additional

Published
2010
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29. One or Several Types of Triptan Overuse Headaches?

Author

Créac'h, Christelle, primary, Radat, Francoise, additional, Mick, Gerard, additional, Guegan‐Massardier, Evelyne, additional, Giraud, Pierric, additional, Guy, Nathalie, additional, Fabre, Nelly, additional, Nachit‐Ouinekh, Fatima, additional, and Lanteri‐Minet, Michel, additional

Published
2009
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33. Safety of home parenteral nutrition in patients with amyotrophic lateral sclerosis: A French national survey.

Author

Abdelnour-Mallet, Maya, Verschueren, Annie, Guy, Nathalie, Soriani, Marie-Hélène, Chalbi, Myriam, Gordon, Paul, Salachas, François, Bruneteau, Gaelle, le Forestier, Nadine, Lenglet, Timothée, Desnuelle, Claude, Clavelou, Pierre, Pouget, Jean, Meininger, Vincent, and Pradat, Pierre-François

Subjects
PARENTERAL feeding, AMYOTROPHIC lateral sclerosis, SURVEYS, HOME care services, CENTRAL venous catheters, CONFIDENCE intervals, PATIENTS
Abstract

We carried out a retrospective multicentre study to assess the safety of home parenteral nutrition (HPN) in patients with ALS. We reviewed the case records of patients from French ALS centres treated with HPN by central venous catheter (CVC) using an implantable port between January 2005 and October 2009. Seventy-three patients received HPN for a total of 11,908 catheter days. Twenty-seven patients experienced a total of 37 CVC related complications resulting in an incidence rate of 3.11 CVC complications/1000 catheter days, including 1.93 septic complications and 1.09 mechanical complications/1000 catheter days. Metabolic complications were frequent but without serious consequences on mortality. The use of the catheter for intravenous therapies in addition to HPN was identified as a septicaemia's risk factor (relative risk (RR) == 2.54, confidence interval (CI) 1.56--4.14, p == 0.04). In conclusion, HPN is an alternative procedure to PEG in advanced ALS patients. The incidence of complications appears to be comparable to data from the literature on HPN in other diseases. A prospective study comparing HPN and radiologic inserted gastrostomy (RIG) would allow comparison of the relative risk-benefit and survival of these procedures. The relation of CVC and RIG placement timing and the complications'' occurrence should also be investigated. [ABSTRACT FROM AUTHOR]

Published
2011
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34. Assessing the upper motor neuron in amyotrophic lateral sclerosis using the triple stimulation technique: A multicenter prospective study.

Author

Grapperon, Aude-Marie, Verschueren, Annie, Jouve, Elisabeth, Morizot-Koutlidis, Régine, Lenglet, Timothée, Pradat, Pierre-François, Salachas, François, Bernard, Emilien, Delstanche, Stéphanie, Maertens de Noordhout, Alain, Guy, Nathalie, Danel, Véronique, Delval, Arnaud, Delmont, Emilien, Rolland, Anne-Sophie, PULSE Study Group, Jomir, Laurent, Devos, David, Wang, François, and Attarian, Shahram

Subjects
*AMYOTROPHIC lateral sclerosis, *MOTOR neurons, *TRANSCRANIAL magnetic stimulation, *LONGITUDINAL method, *MOTOR unit
Abstract

• - Triple stimulation technique can be used in routine clinical practice and in multicenter studies in ALS patients. • - Assessment of corticospinal dysfunction at the first visit of the patient was improved by the use of triple stimulation technique compared to conventional TMS. • - Triple stimulation technique results are correlated with the clinical upper motor neuron score and ALSFRS-R. To evaluate the relevance of transcranial magnetic stimulation (TMS) using triple stimulation technique (TST) to assess corticospinal function in amyotrophic lateral sclerosis (ALS) in a large-scale multicenter study. Six ALS centers performed TST and conventional TMS in upper limbs in 98 ALS patients during their first visit to the center. Clinical evaluation of patients included the revised ALS Functional Rating Scale (ALSFRS-R) and upper motor neuron (UMN) score. TST amplitude ratio was decreased in 62% of patients whereas conventional TMS amplitude ratio was decreased in 25% of patients and central motor conduction time was increased in 16% of patients. TST amplitude ratio was correlated with ALSFRS-R and UMN score. TST amplitude ratio results were not different between the centers. TST is a TMS technique applicable in daily clinical practice in ALS centers for the detection of UMN dysfunction, more sensitive than conventional TMS and related to the clinical condition of the patients. This multicenter study shows that TST can be a routine clinical tool to evaluate UMN dysfunction at the diagnostic assessment of ALS patients. [ABSTRACT FROM AUTHOR]

Published
2021
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35. FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

Author

Broustal O, Camuzat A, Guillot-Noël L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I, and Brice A

Subjects
Aged, Female, Humans, Male, Middle Aged, Pedigree, Phenotype, Amyotrophic Lateral Sclerosis complications, Amyotrophic Lateral Sclerosis genetics, Frontotemporal Lobar Degeneration complications, Frontotemporal Lobar Degeneration genetics, Mutation, Missense genetics, RNA-Binding Protein FUS genetics
Abstract

Rapid advances were made in the knowledge of amyotrophic lateral sclerosis (ALS) with the recent identification of TARDBP and FUS mutations in familial ALS. More recently, FUS-positive inclusions were found in a subset of TDP-43-negative frontotemporal lobar degeneration (FTLD) prompting us to analyze FUS in FTLD and FTLD-ALS patients. The p.Arg521His mutation was identified in a patient who initially had behavioral disorders and rapidly developed ALS. Although the frequency of mutations is low, our study enlarges the phenotypes associated with FUS mutations and shows that FUS could also play a direct pathogenic role in FTLD spectrum of diseases.

Published
2010

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