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5. Profils clinique, électrophysiologique et biologique des neuropathies anti-MAG en fonction du statut mutationnel MYD88 et de l’hémopathie sous-jacente

Author

Guérémy, Alexandre, primary, Delmont, Emilien, additional, Attarian, Shahram, additional, Grapperon, Aude-Marie, additional, Kouton, Ludivine, additional, Farnault, Laure, additional, Boudjarane, John, additional, Gabert, Jean, additional, Fortanier, Etienne, additional, and Boucraut, José, additional

Published
2024
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7. Neurofilament Light Chain Levels Interact with Neurodegenerative Patterns and Motor Neuron Dysfunction in Amyotrophic Lateral Sclerosis

Author

Tilsley, Penelope, primary, Moutiez, Antoine, additional, Brodovitch, Alexandre, additional, El Mendili, Mohamed Mounir, additional, Testud, Benoit, additional, Zaaraoui, Wafaa, additional, Verschueren, Annie, additional, Attarian, Shahram, additional, Guye, Maxime, additional, Boucraut, José, additional, Grapperon, Aude-Marie, additional, and Stellmann, Jan-Patrick, additional

Published
2024
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8. Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial

Author

De Bleecker, Jan L., De Koning, Kathy, De Mey, Katrien, De Pue, Annelien, Mercelis, Rudolf, Wyckmans, Maren, Vinck, Caroline, Wagemaekers, Linda, Baets, Jonathan, Ng, Eduardo, Shabanpour, Jafar, Daniyal, Lubna, Mannan, Shabber, Katzberg, Hans D., Genge, Angela, Siddiqi, Zaeem, Junkerová, Jana, Horakova, Jana, Reguliova, Katerina, Tyblova, Michaela, Jurajdova, Ivana, Novakova, Iveta, Jakubikova, Michala, Pitha, Jiri, Vohanka, Stanislav, Havelkova, Katerina, Horak, Tomas, Bednarik, Josef, Horakova, Mageda, Meisel, Andreas, Remstedt, Dike, Heibutzki, Claudia, Kohler, Siegfried, Gerischer, Lea, Hoffman, Sarah, Stascheit, Frauke, Vissing, John, Zafirakos, Lizzie, Khatri, Kuldeep Kumar, Autzen, Anne, Godtfeldt Stemmerik, Mads Peter, Andersen, Henning, Attarian, Shahram, Salort-Campana, Emmanuelle, Delmont, Emilien, Grapperon, Aude-Marie, Kouton, Ludivine, Tsiskaridze, Alexander, Rózsa, Csilla, Jakab, Gedeonne Margo, Toth, Szilvia, Szabo, Gyorgyi, Bors, David, Szabo, Eniko, Campanella, Angela, Vanoli, Fiammetta, Frangiamore, Rita, Antozzi, Carlo, Bonanno, Silvia, Maggi, Lorenzo, Giossi, Riccardo, Saccà, Francesco, Marsili, Angela, Pane, Chiara, Puorro, Giorgia, Reia, Antonio, Antonini, Giovanni, Alfieri, Girolamo, Morino, Stefania, Garibaldi, Matteo, Fionda, Laura, Leonardi, Luca, Konno, Shingo, Uzawa, Akiyuki, Sakuma, Kaoru, Watanabe, Chiho, Ozawa, Yukiko, Yasuda, Manato, Onishi, Yosuke, Samukawa, Makoto, Tsuda, Tomoko, Suzuki, Yasushi, Ishida, Sayaka, Watanabe, Genya, Takahashi, Masanori, Nakamura, Hiroko, Sugano, Erina, Kubota, Tomoya, Imai, Tomihiro, Suzuki., Mari, Mori, Ayako, Yamamoto, Daisuke, Ikeda, Kazuna, Hisahara, Shin, Masuda, Masayuki, Takaki, Miki, Minemoto, Kanako, Ido, Nobuhiro, Naito, Makiko, Okubo, Yoshihiko, Sugimoto, Takamichi, Takematsu, Yuka, Kamei, Ayumi, Shimizu, Mihiro, Naito, Hiroyuki, Nomura, Eiichi, Van Heur, Marjolein, Peters, Anne-Marie, Tannemaat, Martijn, Ruiter, Annabel, Keene, Kevin, Halas, Marek, Szczudlik, Andrzej, Pinkosz, Marta, Frasinska, Monika, Zwolinska, Grazyna, Kostera-Pruszczyk, Anna, Golenia, Aleksandra, Szczudlik, Piotr, Szczechowski, Lech, Pasko, Aneta, Poverennova, Irina, Urtaeva, Lubov, Kuznetsova, Nadezhda, Romanova, Tatiana, Nadezhda, Malkova, Lapochka, Elena, Korobko, Denis, Vergunova, Ilona, Melnikova, Anna, Bulatova, Ekaterina, Antipenko, Elena, Basta, Ivana, Bozovic, Ivo, Lavrnic, Dragana, Stojanovic, Vidosava Rakocevic, Beydoun, Said, Akhter, Salma, Malekniazi, Ali, Darki, Leila, Pimentel, Norianne, Cannon, Victoria, Chopra, Manisha, Traub, Rebecca, Mozaffar, Tahseen, Hernandez, Isela, Turner, Ivonne, Habib, Ali, Goyal, Namita, Kak, Manisha, Velasquez, Erik, Lam, Lucy, Suresh, Niraja, Farias, Jerrica, Jones, Sarah, Wagoner, Mary, Eggleston, Debbie, Bertorini, Tulio, Benzel, Cindy, Henegar, Robert, Pillai, Rekha, Bharavaju-Sanka, Ratna, Paiz, Carolyn, Jackson, Carlayne, Ruzhansky, Katherine, Dimitrova, Diana, Visser, Amy, Chahin, Nizar, Levine, Todd, Lisak, Robert, Jia, Kelly, Mada, Flicia, Bernitsas, Evanthia, Pasnoor, Mamatha, Roath, Katherine, Colgan, Samantha, Currence, Melissa, Heim, Andrew, Barohn, Richard, Dimachkie, Mazen, Statland, Jeffrey, Jawdat, Omar, Jabari, Duaa, Farmakidis, Constantine, Gilchrist, James, Li, Yuebing, Caristo, Irys, Hastings, Debbie, Morren, John Anthony, Weiss, Michael, Muppidi, Srikanth, Nguyen, Tia, Welsh, Lesly, So, Yuen, Goyal, Neelam, Pulley, Michael, Bailey, Cathy, Quraishi, Zubair, Berger, Alan, Sahagian, Gregory, Camberos, Yasmin, Frishberg, Benjamin, Howard, James F, Jr, Bril, Vera, Vu, Tuan, Karam, Chafic, Peric, Stojan, Margania, Temur, Murai, Hiroyuki, Bilinska, Malgorzata, Shakarishvili, Roman, Smilowski, Marek, Guglietta, Antonio, Ulrichts, Peter, Vangeneugden, Tony, Utsugisawa, Kimiaki, Verschuuren, Jan, and Mantegazza, Renato

Published
2021
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9. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Author

Vita, Giuseppe, Rizzo, Vincenzo, Russo, Massimo, Mazzeo, Anna, Gentile, Luca, Berk, John L, Brueckner, Caitlin, Lazzari, Victoria, Wiesman, Janice, DeLong, Douglas, Victory, Jennifer, Dalton, James, May, John, Gilmore, Catherine, Attarian, Shahram, Diallo, Saran, Delmont, Emilien, Pouget, Jean, Verschueren, Annie, Grapperon, Aude-Marie, Campana-Salort, Emmanuelle, Conceição, Isabel M, Lopes, Ana, Lamas, Filipa, Neves, Carlos, Castro, Jose, Pereira, Pedro, Castro, Isabel, Franco, Ana, Santos, Miguel Oliveira, de Azevedo Coutinho, Conceição, Falcao de Campos, Catarina, Coelho, Teresa, Hipólito Reis, Antonio, Correia, Nuno, Perez, Javier M, Martins da Silva, Ana, Alves, Cristina, Cardoso, Marcio, Valdrez, Katia, Monte, Julia R, Pessoa, Bernardete, Guimaraes, Nadia, Freitas, Monica, Ramalho, Joana, Ferreira, Natalia, Kuzume, Daisuke, Tard, Celine, Waucquier, Nawal, Rougeaux, Isabelle, Brice, Sylvie, Kasprzyk, Emmanuelle, Elrezzi, Elise, Meguig, Sayah, Hachulla, Eric, Gauvain, Clement, Migaud-Chervy, Maria-Claire, Deplanque, Dominique, Jozefowicz, Elsa, Lebellec, Loic, Adams, David, Balaya-Gouraya, Line, Jehan Lacour, Nathalie, Bournane, Halima, Martin, Nathalie, Elabed, Mongia, Sacko, Niamey, Boubrit, Yasmine, Gaouar, Amina, Rakotondratafika, Fetra, Théaudin-Saliou, Marie, Cauquil-Michon, Cécile, Labeyrie, Celine, Not, Adeline, Al-Salameh, Abdallah, Lecoq, Anne-Lise, Stephant, Maeva, Echaniz-Laguna, Andoni, Becquemont, Laurent, Beaudonnet, Guillemette, Algalarrondo, Vincent, Eliahou, Ludivine, Slama, Michel S, Rousseau, Antoine, Signate, Aissatou, Berthelot, Emeline, Inamo, Jocelyn, Planté-Bordeneuve, Violaine, Vervoitte, Laetitia, Focseneanu, Cecile, Gendre, Thierry, Arrouasse, Raphaele, Ayache, Samar S., Ernande, Laura, Le Corvoisier, Philippe, Salhi, Hayet, Choumert, Ariane, Ehinger, Vincent, Ruiz, Julie, Charlin, Cyril, Megelin, Thomas, Brannagan III, Thomas H, Fayerman, Raisy, Kim, Arreum, Paras, Allan, Gonzalez, Leidy J, Tsang, Steven, Wajnsztajn, Fernanda, Shije, Jeffrey, Ulane, Christina, Kleyman, Inna, Weimer, Louis, Cioroiu, Comana, Lambrianides, Sakis, Abu-Manneh, Rana, Zamba-Papanicolaou, Eleni, Agathangelou, Petros, Leonidou, Eleni, Tada, Satoshi, Fujita, Akemi, Nagai, Masahiro, Ando, Rina, Hosokawa, Yuko, Yamanishi, Yuki, Overcash, J. Scott, Giardino, Elena, Boyer, Leslie, Dang, Lien, Le, An, Nguyen, Tyler, Giang, Lien, Sellers, Peter, Tran, Leyla, Truong, Nghi, Vinas, Maita, Hrkman, Nicole, Miller, Sarah, Nguyen, David, Smith, Ashley, Pu, Helen, Li, Steve, Vuong, Thao, Dioso, Holly, Green, Sinikka, Lee, Kia, Chu, Hanh, Waters, Michael, Coskun, Derya J, Zepeda, Karla A, O'Riordan, William, Obici, Laura, Cortese, Andrea, Lozza, Alessandro, Merlini, Giampaolo, Rosti, Vittorio, Sabatelli, Mario, Bisogni, Giulia, Bernardo, Daniela, Luigetti, Marco, Di Paolantonio, Andrea, Guglielmino, Valeria, Romano, Angela, Nienhuis, Hans, Bulthuis-Kuiper, Janita, Kristen, Arnt V, Gerk, Olga, Ulbricht, Hannah, Taylor, Lenka, Meyle, Eva, Kleinschmidt, Natalia, Meyrath, David, Noe-Schwenn, Simone, Meng, Ulrike, Bauer, Ralf, aus dem Siepen, Fabian, Hein, Selina, Takahashi, Tetsuya, Oshita, Tomohiko, Koujin, Yoko, Neshige, Shuichiro, Nezu, Tomohisa, Segawa, Akiko, Ueno, Hiroki, Morino, Hiroyuki, Campistol, Josep M, Rodas Marin, Lida Maria, Blasco Pelicano, Josep Miquel, Dávila, Lucía Galán, Palacios, Marta, Pytel Cordoba, Vanesa, Guerrero Sola, Antonio, Horga, Alejandro, García Feijoo, Julián, Perez de Isla, Leopoldo, Marques Júnior, Wilson, Moscardini, Mariana, Litcanov, Debora Cristina, Viera Lima, Ana Flavia, Rodrigues, Leonardo, Marques Coutinho, Barbara, Moreira, Carolina Lavigne, Daccach Marques, Vanessa, Munoz Beamud, Francisco, Gragera Martínez, Álvaro, Borrachero, Cristina, Losada López, Inés Asunción, Cisneros Barroso, Eugenia, Rodríguez Rodríguez, Adrián, Sanz, Monica, Rigo Oliver, Elena, González Moreno, Juan, Gamez Martinez, Jose M, Descals, Cristina, Uson, Mercedes, Jose Vega, Francisco, Figuerola, Antoni, Montala, Carles, Waddington-Cruz, Márcia, Dias da Silva, Moises, Gervais de Santa Rosa, Renata, Pinto, Luiz Felipe, Pinto, Marcus Vinicius, Cardoso Berensztejn, Amanda, Barroso, Fabio, Lautre, Andrea, Orellana, Lucas G, González-Duarte Briseño, Maria Alejandra, Cárdenas-Soto, Karla, Jiménez López, Brenda Poled, Pérez-Castañeda, Sandra Lorena, Cantú Brito, Carlos Gerardo, Rivera de la Parra, David, Hernandez Reyes, Jose Pablo, del Mar Saniger Alba, Maria, Criollo Mora, Elia, Parman, Yesim, Rezzan, Kus Jülide, Sahin, Erdi, Serbest, Nail G, Durmus, Hacer, Cakar, Arman, Tugal Tutkun, Nuriye Ilknur, Karamursel, Sacit, Elitok, Ali, Sirin Inan, Nermin G, Altinkurt, Emre, Polydefkis, Michael, Ye, Jing, Allen, Adriane C, Chaudhry, Vinay, Jarrett, Raquel, Bressler, Neil, Burks, Kathleen L, Liu, Qingfeng, Khoshnoodi, Mohammad, Judge, Daniel P, Vista, Geno, Shah, Syed Mahmood, Hamaguchi, Hirotoshi, Oda, Junko, Fukase, Emi, Taniguchi, Ikuko, Oda, Tetsuya, Endo, Hironobu, Shimomura, Masahiro, Katanazaka, Kimitaka, Koto, Shusuke, Nakano, Takahiro, Scheid, Christof, Zueiter, Andreas, Pester, Lars, Walter, Doreen, Özdemir, Betül, Frenzel, Lukas F, Holtick, Udo, Oh, Jeeyoung, Kim, Hee Jin, Shin, Hyun Jin, Choi, Kyomin, Yamashita, Taro, Ueda, Mitsuharu, Masuda, Teruaki, Misumi, Yohei, Ueda, Akihiko, Nakahara, Keiichi, Yorita, Akiko, Tsuruhisa, Seiko, Taniwaki, Takayuki, Harada, Masaya, Moritaka, Taiga, Sakurada, Naonori, Mauricio, Elizabeth A, Baskin, Amber, Dimberg, Elliot, Dispenzieri, Angela, Fonder, Amie, Hobbs, Miriam, Russell, Stephen J, Dyck, Peter, Gonsalves, Wilson, Leung, Nelson, Witzig, Thomas E, Zeldenrust, Steven R, Hwa, Lisa, Kapoor, Prashant, Kumar, Shaji K, Lin, Yi, Lust, John A, Rajkumar, Vincent S, Dingli, David, Gertz, Morie A, Go, Ronald, Hayman, Suzanne R, Dalia, Samir, Carrillo, Esmeralda, Gorevic, Peter, Mason, Garnette, Chao, Chi-Chao, Lee, Ming-Jen, Su, Jen-Jen, Hsieh, Sung-Tsang, Tsai, Li-Kai, Yeh, Shin-Joe, Yang, Chih-Chao, Ajroud-Driss, Senda Ajroud-Driss, Casey, Patricia, Joslin, Benjamin C, Freimer, Miriam, Sankey, Alison, Kenepp, Amanda, Heintzman, Sarah, LoRusso, Samantha, Hokezu, Youichi, Kim, Byoung-Joon, Kim, JuHyeon, Lee, Ga Yeon, Cho, Eun Bin, Jeon, Eun-Seok, Min, Ju-Hong, Seok, Jin Myoung, Lee, Hye Lim, Park, Jae Hong, Sekijima, Yoshiki, Miyazawa, Chinatsu, Kato, Nagaaki, Kishida, Dai, Hineno, Akiyo, Kodaira, Minori, Yoshinaga, Tsuneaki, Miyahara, Teruyoshi, Imai, Akira, Matsumoto, Kazuhiko, Lin, Kon-Ping, Lee, Yi-Chung, Wixner, Jonas, Falk, Malin, Pilebro, Bjorn, Suhr, Ole, Lindqvist, Per, Soderberg, Karin, Pedrosa-Domellöf, Fatima, Anan, Intissar, Nordh, Erik, Tournev, Ivaylo, Zhelyazkova-Glaveeva, Sashka, Cherneva, Zheyna, Sarafov, Staiko, Chamova, Teodora, Cherninkova-Gopina, Sylvia, Schmidt, Hartmut H, Friebel, Frauke, Zibert, Andree, Mihailovic, Natasa, Schubert, Friederike, Vorona, Elena, Lahme, Larissa, Huesing-Kabar, Anna, Schilling, Matthias, Kabar, Iyad, Gillmore, Julian D, Martinez-Naharro, Ana, Chacko, Liza, Cohen, Oliver, Law, Steven, Rezk, Tamer, Lachmann, Helen J, Quan, Dianna, Blume, Brianna, Dixon, Stacy, Low, Soon Chai, Chan, Soo Looi, Lim, He Eng Li, Goh, Khean Jin, Mezei, Michelle M, Kraus, Deborah, Jack, Kristin, Wade, N. Kevin, Lopate, Glenn, Zwijack, Brittany, Florence, Julaine, Sommerville, R. Brian, Stewart, Graeme, Ryder, Julie, Mekhael, Linda, Taylor, Mark, Suan, Daniel, Wells, Karen, Stone, Paula, Itoya, Amenze, Owusu-Sekyere, Mercy, Thai, Desmond, Chahine, Ilonah, Pedrosa, Salve, Do, Thi Hoa (Therese), González-Duarte, Alejandra, Kyriakides, Theodoros, Ajroud-Driss, Senda, Mauricio, Elizabeth, Brannagan, Thomas H, III, Aldinc, Emre, Wang, Jing Jing, White, Matthew T, Vest, John, Berber, Erhan, and Sweetser, Marianne T

Published
2021
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10. Motor unit number index as an individual biomarker: Reference limits of intra-individual variability over time in healthy subjects

Author

Delmont, Emilien, Wang, François, Lefaucheur, Jean-Pascal, Puma, Angela, Breniere, Céline, Beaudonnet, Guillemette, Cintas, Pascal, Collin, Romain, Fortanier, Etienne, Grapperon, Aude-Marie, Jomir, Laurent, Kribich, Hafida, Kouton, Ludivine, Kuntzer, Thierry, Lenglet, Timothee, Magot, Armelle, Nordine, Tarik, Ochsner, François, Bolloy, Gaëlle, Pereon, Yann, Salort-Campana, Emmanuelle, Tard, Céline, Vicino, Alex, Verschueren, Annie, and Attarian, Shahram

Published
2020
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11. Clinical, biological, electrophysiological and therapeutic profile of patients with anti-MAG neuropathy according to MYD88L265P and CXCR4 mutations and underlying haemopathy.

Author

Guérémy, Alexandre, Boucraut, José, Boudjarane, John, Grapperon, Aude-Marie, Fortanier, Etienne, Farnault, Laure, Gabert, Jean, Vely, Frédéric, Lacroix, Romaric, Kouton, Ludivine, Attarian, Shahram, and Delmont, Emilien

Subjects
BRUTON tyrosine kinase, CXCR4 receptors, SOMATIC mutation, MUCOSA-associated lymphoid tissue lymphoma, ELECTROPHYSIOLOGY
Abstract

Introduction: Anti-MAG neuropathies are associated with an IgM monoclonal gammopathy of undetermined significance (MGUS) or with a malignant haemopathy. Our objective was to determine whether the presence of a haemopathy or somatic mutations of MYD88 and CXCR4 genes influences disease presentation and response to rituximab (RTX). Methods: We included 79 patients (mean age 74 years, disease duration 9.68 years) who had a bone marrow aspiration with morphologic and immunophenotypic analysis. MYD88L265P and CXCR4 mutations were analysed in peripheral B cells. Information collected included: inflammatory neuropathy cause and treatment sensory sum score (ISS), MRC testing, overall neuropathy limitation scale (ONLS), Rash-built Overall Disability Score (RODS), ataxia score, anti-MAG titres, peak IgM dosage, neurofilament light chain levels, motor and sensory amplitudes, motor unit index (MUNIX) and motor unit size index (MUSIX) sum scores. Efficacy of RTX was evaluated at 12 months in 26 patients. Results: Malignant haematological disorders were discovered in 17 patients (22%): 13 Waldenstrom macroglobulinemia, 3 marginal zone lymphoma and one mantle cell lymphoma. MYD88L265P mutation was detected in 29/60 (48%) patients and CXCR4 in 1 single patient. Disease severity, biological and electrophysiological data and response to RTX were comparable in patients with MGUS/lymphoma and patients with/without MYD88L265P mutation. ISS was lower and MUSIX higher in patients improved by RTX. Conclusions: MYD88L265P mutation and underlying haemopathies are not predictive of a more severe disease. However, in cases of resistant and progressive neuropathy, they provide an opportunity to prescribe newly available drugs such as Bruton tyrosine kinase inhibitors. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera

Author

Delmont, Emilien, Brodovitch, Alexandre, Kouton, Ludivine, Allou, Thibaut, Beltran, Stéphane, Brisset, Marion, Camdessanché, Jean Philippe, Cauquil, Cécile, Cirion, Jonathan, Dubard, Thierry, Echaniz-Laguna, Andoni, Grapperon, Aude-Marie, Jauffret, Joëlle, Juntas-Morales, Raul, Kremer, Laurent Daniel, Kuntzer, Thierry, Labeyrie, Céline, Lanfranco, Lucas, Maisonobe, Thierry, Mavroudakis, Nicolas, Mecharles-Darrigol, Sylvie, Nicolas, Guillaume, Noury, Jean-Baptiste, Perie, Maud, Rajabally, Yusuf A., Remiche, Gauthier, Rouaud, Violaine, Tard, Céline, Salort-Campana, Emmanuelle, Verschueren, Annie, Viala, Karine, Wang, Adrien, Attarian, Shahram, and Boucraut, José

Published
2020
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13. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Author

Pisella, Lucie Isoline, Fernandes, Sara, Solé, Guilhem, Stojkovic, Tanya, Tard, Céline, Chanson, Jean-Baptiste, Bouhour, Françoise, Salort-Campana, Emmanuelle, Beaudonnet, Guillemette, Debergé, Louise, Duval, Fanny, Grapperon, Aude-Marie, Masingue, Marion, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Audic, Frédérique, Behin, Anthony, Friedman, Diane, Magot, Armelle, Noury, Jean-Baptiste, Souvannanorath, Sarah, Wahbi, Karim, Antoine, Jean-Christophe, Bigaut, Kévin, Camdessanché, Jean-Philippe, Cintas, Pascal, Debs, Rabab, Espil-Taris, Caroline, Kremer, Laurent, Kuntzer, Thierry, Laforêt, Pascal, Laugel, Vincent, Mallaret, Martial, Michaud, Maud, Nollet, Sylvain, Svahn, Juliette, Vicart, Savine, Villar-Quiles, Rocio Nur, Desguerre, Isabelle, Adams, David, Segovia-Kueny, Sandrine, Merret, Géraldine, Hammouda, Elhadi, Molon, Annamaria, and Attarian, Shahram

Published
2021
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15. Electrophysiological features of chronic inflammatory demyelinating polyradiculoneuropathy associated with IgG4 antibodies targeting neurofascin 155 or contactin 1 glycoproteins

Author

Kouton, Ludivine, Boucraut, José, Devaux, Jérome, Rajabally, Yusuf A., Adams, David, Antoine, Jean Christophe, Bourdain, Frédéric, Brodovitch, Alexandre, Camdessanché, Jean-Philippe, Cauquil, Cécile, Ciron, Jonathan, Dubard, Thierry, Echaniz-Laguna, Andoni, Grapperon, Aude-Marie, Juntas-Morales, Raul, Kremer, Laurent, Kuntzer, Thierry, Labeyrie, Céline, Lanfranco, Luca, Léger, Jean-Marc, Maisonobe, Thierry, Mavroudakis, Nicolas, Mecharles-Darrigol, Sylvie, Merle, Philippe, Noury, Jean-Baptiste, Rouaud, Violaine, Tard, Céline, Théaudin, Marie, Vallat, Jean-Michel, Viala, Karine, Attarian, Shahram, and Delmont, Emilien

Published
2020
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16. HeterozygousSPTLC1p.Leu39del is a major cause of slow-progressing juvenile ALS

Author

Guissart, Claire, primary, De la Cruz, Elisa, additional, Flabeau, Olivier, additional, Grapperon, Aude-Marie, additional, Corazza, Giovanni, additional, Junilhon, Lucie, additional, Delmas, Jean-Charles, additional, Millecamps, Stéphanie, additional, Polge, Anne, additional, Amador, Maria del Mar, additional, Salachas, Francois, additional, Rochat, Julie, additional, Goizet, Cyril, additional, Juntas Morales, Raul, additional, Lumbroso, Serge, additional, Philibert, Pascal, additional, Cheillan, David, additional, and Mouzat, Kevin, additional

Published
2023
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20. Heterozygous SPTLC1 p.Leu39del is a major cause of slow- progressing juvenile ALS.

Author

Guissart, Claire, De la Cruz, Elisa, Flabeau, Olivier, Grapperon, Aude-Marie, Corazza, Giovanni, Junilhon, Lucie, Delmas, Jean- Charles, Millecamps, Stéphanie, Polge, Anne, Amador, Maria del Mar, Salachas, Francois, Rochat, Julie, Goizet, Cyril, Juntas Morales, Raul, Lumbroso, Serge, Philibert, Pascal, Cheillan, David, and Mouzat, Kevin

Subjects
MOTOR neuron diseases, AMYOTROPHIC lateral sclerosis, LIQUID chromatography-mass spectrometry
Abstract

This article presents a study on juvenile amyotrophic lateral sclerosis (JALS), a rare motor neuron disease that affects individuals under 25 years old. The study focuses on the SPTLC1 gene, which has been linked to JALS. Researchers identified a specific mutation in the SPTLC1 gene, known as p.Leu39del, and found that it is a major cause of JALS. The study also explores the lipid profile of patients with this mutation and suggests that lipid dysmetabolism could be used as biomarkers and therapeutic targets for JALS. The research provides important insights for the genetic diagnosis of JALS and highlights the need for further investigation into SPTLC1 mutations. [Extracted from the article]

Published
2024
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22. SORD‐related peripheral neuropathy in a French and Swiss cohort: clinical features, genetic analysis and sorbitol dosage.

Author

Nicolas, Pons, primary, Fernández‐Eulate, Gorka, additional, Pegat, Antoine, additional, Théaudin, Marie, additional, Régis, Guieu, additional, Ripellino, Paolo, additional, Manon, Devedjian, additional, Patrick, Mace, additional, Masingue, Marion, additional, Léonard‐Louis, Sarah, additional, Petiot, Philipe, additional, Roche, Pauline, additional, Bernard, Emilien, additional, Françoise, Bouchour, additional, Jean‐Marc, Good, additional, Verschueren, Annie, additional, Grapperon, Aude‐Marie, additional, Salort, Emmanuelle, additional, Anaïs, Grosset, additional, Chanson, Jean‐Baptiste, additional, Nadaj‐Pakleza, Aleksandra, additional, Bédat‐Millet, Anne‐Laure, additional, Choumert, Ariane, additional, Anne, Barnier, additional, Ghassen, Hamdi, additional, Lesca, Gaëtan, additional, Fabienne, Prieur, additional, Arnaud, Bruneel, additional, Latour, Philippe, additional, Stojkovic, Tanya, additional, Attarian, Shahram, additional, and Bonello‐Palot, Nathalie, additional

Published
2023
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26. SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

Author

Pons, Nicolas, Fernández‐Eulate, Gorka, Pegat, Antoine, Théaudin, Marie, Guieu, Régis, Ripellino, Paolo, Devedjian, Manon, Mace, Patrick, Masingue, Marion, Léonard‐Louis, Sarah, Petiot, Philipe, Roche, Pauline, Bernard, Emilien, Bouhour, Françoise, Good, Jean‐Marc, Verschueren, Annie, Grapperon, Aude‐Marie, Salort, Emmanuelle, Grosset, Anaïs, and Chanson, Jean‐Baptiste

Subjects
PERIPHERAL neuropathy, NUCLEOTIDE sequencing, SORBITOL, MUSCULAR atrophy, CHARCOT-Marie-Tooth disease
Abstract

Background and purpose: Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot–Marie–Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) resulting in lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD‐related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants. Methods: Patients followed at neuromuscular reference centres in France and Switzerland were ascertained. Sanger sequencing and next generation sequencing were performed to sequence SORD, and mass spectrometry was used to measure patients' serum sorbitol. Results: Thirty patients had SORD peripheral neuropathy associating LL weakness with muscular atrophy, foot deformities (87%), and sometimes proximal LL weakness (20%) or distal upper limb weakness (50%). Eighteen had dHMN, nine had CMT2, and three had intermediate CMT. Most of them had a mild or moderate disease severity. Sixteen carried a homozygous c.757delG (p.Ala253Glnfs*27) variant, and 11 carried compound heterozygous variants, among which four variants were not yet reported: c.403C > G, c.379G > A, c.68_100 + 1dup, and c.850dup. Two unrelated patients with different origins carried a homozygous c.458C > A variant, and one patient carried a new homozygous c.786 + 5G > A variant. Mean serum sorbitol levels were 17.01 mg/L ± 8.9 SD for patients carrying SORD variants. Conclusions: This SORD‐inherited peripheral neuropathy cohort of 30 patients showed homogeneous clinical presentation and systematically elevated sorbitol levels (22‐fold) compared to controls, with both diagnostic and potential therapeutic implications. [ABSTRACT FROM AUTHOR]

Published
2023
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31. Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial

Author

Howard, James F, primary, Bril, Vera, additional, Vu, Tuan, additional, Karam, Chafic, additional, Peric, Stojan, additional, Margania, Temur, additional, Murai, Hiroyuki, additional, Bilinska, Malgorzata, additional, Shakarishvili, Roman, additional, Smilowski, Marek, additional, Guglietta, Antonio, additional, Ulrichts, Peter, additional, Vangeneugden, Tony, additional, Utsugisawa, Kimiaki, additional, Verschuuren, Jan, additional, Mantegazza, Renato, additional, De Bleecker, Jan L., additional, De Koning, Kathy, additional, De Mey, Katrien, additional, De Pue, Annelien, additional, Mercelis, Rudolf, additional, Wyckmans, Maren, additional, Vinck, Caroline, additional, Wagemaekers, Linda, additional, Baets, Jonathan, additional, Ng, Eduardo, additional, Shabanpour, Jafar, additional, Daniyal, Lubna, additional, Mannan, Shabber, additional, Katzberg, Hans D., additional, Genge, Angela, additional, Siddiqi, Zaeem, additional, Junkerová, Jana, additional, Horakova, Jana, additional, Reguliova, Katerina, additional, Tyblova, Michaela, additional, Jurajdova, Ivana, additional, Novakova, Iveta, additional, Jakubikova, Michala, additional, Pitha, Jiri, additional, Vohanka, Stanislav, additional, Havelkova, Katerina, additional, Horak, Tomas, additional, Bednarik, Josef, additional, Horakova, Mageda, additional, Meisel, Andreas, additional, Remstedt, Dike, additional, Heibutzki, Claudia, additional, Kohler, Siegfried, additional, Gerischer, Lea, additional, Hoffman, Sarah, additional, Stascheit, Frauke, additional, Vissing, John, additional, Zafirakos, Lizzie, additional, Khatri, Kuldeep Kumar, additional, Autzen, Anne, additional, Godtfeldt Stemmerik, Mads Peter, additional, Andersen, Henning, additional, Attarian, Shahram, additional, Salort-Campana, Emmanuelle, additional, Delmont, Emilien, additional, Grapperon, Aude-Marie, additional, Kouton, Ludivine, additional, Tsiskaridze, Alexander, additional, Rózsa, Csilla, additional, Jakab, Gedeonne Margo, additional, Toth, Szilvia, additional, Szabo, Gyorgyi, additional, Bors, David, additional, Szabo, Eniko, additional, Campanella, Angela, additional, Vanoli, Fiammetta, additional, Frangiamore, Rita, additional, Antozzi, Carlo, additional, Bonanno, Silvia, additional, Maggi, Lorenzo, additional, Giossi, Riccardo, additional, Saccà, Francesco, additional, Marsili, Angela, additional, Pane, Chiara, additional, Puorro, Giorgia, additional, Reia, Antonio, additional, Antonini, Giovanni, additional, Alfieri, Girolamo, additional, Morino, Stefania, additional, Garibaldi, Matteo, additional, Fionda, Laura, additional, Leonardi, Luca, additional, Konno, Shingo, additional, Uzawa, Akiyuki, additional, Sakuma, Kaoru, additional, Watanabe, Chiho, additional, Ozawa, Yukiko, additional, Yasuda, Manato, additional, Onishi, Yosuke, additional, Samukawa, Makoto, additional, Tsuda, Tomoko, additional, Suzuki, Yasushi, additional, Ishida, Sayaka, additional, Watanabe, Genya, additional, Takahashi, Masanori, additional, Nakamura, Hiroko, additional, Sugano, Erina, additional, Kubota, Tomoya, additional, Imai, Tomihiro, additional, Suzuki., Mari, additional, Mori, Ayako, additional, Yamamoto, Daisuke, additional, Ikeda, Kazuna, additional, Hisahara, Shin, additional, Masuda, Masayuki, additional, Takaki, Miki, additional, Minemoto, Kanako, additional, Ido, Nobuhiro, additional, Naito, Makiko, additional, Okubo, Yoshihiko, additional, Sugimoto, Takamichi, additional, Takematsu, Yuka, additional, Kamei, Ayumi, additional, Shimizu, Mihiro, additional, Naito, Hiroyuki, additional, Nomura, Eiichi, additional, Van Heur, Marjolein, additional, Peters, Anne-Marie, additional, Tannemaat, Martijn, additional, Ruiter, Annabel, additional, Keene, Kevin, additional, Halas, Marek, additional, Szczudlik, Andrzej, additional, Pinkosz, Marta, additional, Frasinska, Monika, additional, Zwolinska, Grazyna, additional, Kostera-Pruszczyk, Anna, additional, Golenia, Aleksandra, additional, Szczudlik, Piotr, additional, Szczechowski, Lech, additional, Pasko, Aneta, additional, Poverennova, Irina, additional, Urtaeva, Lubov, additional, Kuznetsova, Nadezhda, additional, Romanova, Tatiana, additional, Nadezhda, Malkova, additional, Lapochka, Elena, additional, Korobko, Denis, additional, Vergunova, Ilona, additional, Melnikova, Anna, additional, Bulatova, Ekaterina, additional, Antipenko, Elena, additional, Basta, Ivana, additional, Bozovic, Ivo, additional, Lavrnic, Dragana, additional, Stojanovic, Vidosava Rakocevic, additional, Beydoun, Said, additional, Akhter, Salma, additional, Malekniazi, Ali, additional, Darki, Leila, additional, Pimentel, Norianne, additional, Cannon, Victoria, additional, Chopra, Manisha, additional, Traub, Rebecca, additional, Mozaffar, Tahseen, additional, Hernandez, Isela, additional, Turner, Ivonne, additional, Habib, Ali, additional, Goyal, Namita, additional, Kak, Manisha, additional, Velasquez, Erik, additional, Lam, Lucy, additional, Suresh, Niraja, additional, Farias, Jerrica, additional, Jones, Sarah, additional, Wagoner, Mary, additional, Eggleston, Debbie, additional, Bertorini, Tulio, additional, Benzel, Cindy, additional, Henegar, Robert, additional, Pillai, Rekha, additional, Bharavaju-Sanka, Ratna, additional, Paiz, Carolyn, additional, Jackson, Carlayne, additional, Ruzhansky, Katherine, additional, Dimitrova, Diana, additional, Visser, Amy, additional, Chahin, Nizar, additional, Levine, Todd, additional, Lisak, Robert, additional, Jia, Kelly, additional, Mada, Flicia, additional, Bernitsas, Evanthia, additional, Pasnoor, Mamatha, additional, Roath, Katherine, additional, Colgan, Samantha, additional, Currence, Melissa, additional, Heim, Andrew, additional, Barohn, Richard, additional, Dimachkie, Mazen, additional, Statland, Jeffrey, additional, Jawdat, Omar, additional, Jabari, Duaa, additional, Farmakidis, Constantine, additional, Gilchrist, James, additional, Li, Yuebing, additional, Caristo, Irys, additional, Hastings, Debbie, additional, Morren, John Anthony, additional, Weiss, Michael, additional, Muppidi, Srikanth, additional, Nguyen, Tia, additional, Welsh, Lesly, additional, So, Yuen, additional, Goyal, Neelam, additional, Pulley, Michael, additional, Bailey, Cathy, additional, Quraishi, Zubair, additional, Berger, Alan, additional, Sahagian, Gregory, additional, Camberos, Yasmin, additional, and Frishberg, Benjamin, additional

Published
2021
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32. Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities

Author

Muratet, François, primary, Teyssou, Elisa, additional, Chiot, Aude, additional, Boillée, Séverine, additional, Lobsiger, Christian S, additional, Bohl, Delphine, additional, Gyorgy, Beata, additional, Guegan, Justine, additional, Marie, Yannick, additional, Amador, Maria del Mar, additional, Salachas, Francois, additional, Meininger, Vincent, additional, Bernard, Emilien, additional, Antoine, Jean-Christophe, additional, Camdessanché, Jean-Philippe, additional, Camu, William, additional, Cazeneuve, Cécile, additional, Fauret-Amsellem, Anne-Laure, additional, Leguern, Eric, additional, Mouzat, Kevin, additional, Guissart, Claire, additional, Lumbroso, Serge, additional, Corcia, Philippe, additional, Vourc'h, Patrick, additional, Grapperon, Aude-Marie, additional, Attarian, Shahram, additional, Verschueren, Annie, additional, Seilhean, Danielle, additional, and Millecamps, Stéphanie, additional

Published
2021
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34. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Author

Adams, David, primary, Polydefkis, Michael, additional, González-Duarte, Alejandra, additional, Wixner, Jonas, additional, Kristen, Arnt V, additional, Schmidt, Hartmut H, additional, Berk, John L, additional, Losada López, Inés Asunción, additional, Dispenzieri, Angela, additional, Quan, Dianna, additional, Conceição, Isabel M, additional, Slama, Michel S, additional, Gillmore, Julian D, additional, Kyriakides, Theodoros, additional, Ajroud-Driss, Senda, additional, Waddington-Cruz, Márcia, additional, Mezei, Michelle M, additional, Planté-Bordeneuve, Violaine, additional, Attarian, Shahram, additional, Mauricio, Elizabeth, additional, Brannagan, Thomas H, additional, Ueda, Mitsuharu, additional, Aldinc, Emre, additional, Wang, Jing Jing, additional, White, Matthew T, additional, Vest, John, additional, Berber, Erhan, additional, Sweetser, Marianne T, additional, Coelho, Teresa, additional, Vita, Giuseppe, additional, Rizzo, Vincenzo, additional, Russo, Massimo, additional, Mazzeo, Anna, additional, Gentile, Luca, additional, Brueckner, Caitlin, additional, Lazzari, Victoria, additional, Wiesman, Janice, additional, DeLong, Douglas, additional, Victory, Jennifer, additional, Dalton, James, additional, May, John, additional, Gilmore, Catherine, additional, Diallo, Saran, additional, Delmont, Emilien, additional, Pouget, Jean, additional, Verschueren, Annie, additional, Grapperon, Aude-Marie, additional, Campana-Salort, Emmanuelle, additional, Lopes, Ana, additional, Lamas, Filipa, additional, Neves, Carlos, additional, Castro, Jose, additional, Pereira, Pedro, additional, Castro, Isabel, additional, Franco, Ana, additional, Santos, Miguel Oliveira, additional, de Azevedo Coutinho, Conceição, additional, Falcao de Campos, Catarina, additional, Hipólito Reis, Antonio, additional, Correia, Nuno, additional, Perez, Javier M, additional, Martins da Silva, Ana, additional, Alves, Cristina, additional, Cardoso, Marcio, additional, Valdrez, Katia, additional, Monte, Julia R, additional, Pessoa, Bernardete, additional, Guimaraes, Nadia, additional, Freitas, Monica, additional, Ramalho, Joana, additional, Ferreira, Natalia, additional, Kuzume, Daisuke, additional, Tard, Celine, additional, Waucquier, Nawal, additional, Rougeaux, Isabelle, additional, Brice, Sylvie, additional, Kasprzyk, Emmanuelle, additional, Elrezzi, Elise, additional, Meguig, Sayah, additional, Hachulla, Eric, additional, Gauvain, Clement, additional, Migaud-Chervy, Maria-Claire, additional, Deplanque, Dominique, additional, Jozefowicz, Elsa, additional, Lebellec, Loic, additional, Adams, David, additional, Balaya-Gouraya, Line, additional, Jehan Lacour, Nathalie, additional, Bournane, Halima, additional, Martin, Nathalie, additional, Elabed, Mongia, additional, Sacko, Niamey, additional, Boubrit, Yasmine, additional, Gaouar, Amina, additional, Rakotondratafika, Fetra, additional, Théaudin-Saliou, Marie, additional, Cauquil-Michon, Cécile, additional, Labeyrie, Celine, additional, Not, Adeline, additional, Al-Salameh, Abdallah, additional, Lecoq, Anne-Lise, additional, Stephant, Maeva, additional, Echaniz-Laguna, Andoni, additional, Becquemont, Laurent, additional, Beaudonnet, Guillemette, additional, Algalarrondo, Vincent, additional, Eliahou, Ludivine, additional, Rousseau, Antoine, additional, Signate, Aissatou, additional, Berthelot, Emeline, additional, Inamo, Jocelyn, additional, Vervoitte, Laetitia, additional, Focseneanu, Cecile, additional, Gendre, Thierry, additional, Arrouasse, Raphaele, additional, Ayache, Samar S., additional, Ernande, Laura, additional, Le Corvoisier, Philippe, additional, Salhi, Hayet, additional, Choumert, Ariane, additional, Ehinger, Vincent, additional, Ruiz, Julie, additional, Charlin, Cyril, additional, Megelin, Thomas, additional, Brannagan III, Thomas H, additional, Fayerman, Raisy, additional, Kim, Arreum, additional, Paras, Allan, additional, Gonzalez, Leidy J, additional, Tsang, Steven, additional, Wajnsztajn, Fernanda, additional, Shije, Jeffrey, additional, Ulane, Christina, additional, Kleyman, Inna, additional, Weimer, Louis, additional, Cioroiu, Comana, additional, Lambrianides, Sakis, additional, Abu-Manneh, Rana, additional, Zamba-Papanicolaou, Eleni, additional, Agathangelou, Petros, additional, Leonidou, Eleni, additional, Tada, Satoshi, additional, Fujita, Akemi, additional, Nagai, Masahiro, additional, Ando, Rina, additional, Hosokawa, Yuko, additional, Yamanishi, Yuki, additional, Overcash, J. Scott, additional, Giardino, Elena, additional, Boyer, Leslie, additional, Dang, Lien, additional, Le, An, additional, Nguyen, Tyler, additional, Giang, Lien, additional, Sellers, Peter, additional, Tran, Leyla, additional, Truong, Nghi, additional, Vinas, Maita, additional, Hrkman, Nicole, additional, Miller, Sarah, additional, Nguyen, David, additional, Smith, Ashley, additional, Pu, Helen, additional, Li, Steve, additional, Vuong, Thao, additional, Dioso, Holly, additional, Green, Sinikka, additional, Lee, Kia, additional, Chu, Hanh, additional, Waters, Michael, additional, Coskun, Derya J, additional, Zepeda, Karla A, additional, O'Riordan, William, additional, Obici, Laura, additional, Cortese, Andrea, additional, Lozza, Alessandro, additional, Merlini, Giampaolo, additional, Rosti, Vittorio, additional, Sabatelli, Mario, additional, Bisogni, Giulia, additional, Bernardo, Daniela, additional, Luigetti, Marco, additional, Di Paolantonio, Andrea, additional, Guglielmino, Valeria, additional, Romano, Angela, additional, Nienhuis, Hans, additional, Bulthuis-Kuiper, Janita, additional, Gerk, Olga, additional, Ulbricht, Hannah, additional, Taylor, Lenka, additional, Meyle, Eva, additional, Kleinschmidt, Natalia, additional, Meyrath, David, additional, Noe-Schwenn, Simone, additional, Meng, Ulrike, additional, Bauer, Ralf, additional, aus dem Siepen, Fabian, additional, Hein, Selina, additional, Takahashi, Tetsuya, additional, Oshita, Tomohiko, additional, Koujin, Yoko, additional, Neshige, Shuichiro, additional, Nezu, Tomohisa, additional, Segawa, Akiko, additional, Ueno, Hiroki, additional, Morino, Hiroyuki, additional, Campistol, Josep M, additional, Rodas Marin, Lida Maria, additional, Blasco Pelicano, Josep Miquel, additional, Dávila, Lucía Galán, additional, Palacios, Marta, additional, Pytel Cordoba, Vanesa, additional, Guerrero Sola, Antonio, additional, Horga, Alejandro, additional, García Feijoo, Julián, additional, Perez de Isla, Leopoldo, additional, Marques Júnior, Wilson, additional, Moscardini, Mariana, additional, Litcanov, Debora Cristina, additional, Viera Lima, Ana Flavia, additional, Rodrigues, Leonardo, additional, Marques Coutinho, Barbara, additional, Moreira, Carolina Lavigne, additional, Daccach Marques, Vanessa, additional, Munoz Beamud, Francisco, additional, Gragera Martínez, Álvaro, additional, Borrachero, Cristina, additional, Cisneros Barroso, Eugenia, additional, Rodríguez Rodríguez, Adrián, additional, Sanz, Monica, additional, Rigo Oliver, Elena, additional, González Moreno, Juan, additional, Gamez Martinez, Jose M, additional, Descals, Cristina, additional, Uson, Mercedes, additional, Jose Vega, Francisco, additional, Figuerola, Antoni, additional, Montala, Carles, additional, Dias da Silva, Moises, additional, Gervais de Santa Rosa, Renata, additional, Pinto, Luiz Felipe, additional, Pinto, Marcus Vinicius, additional, Cardoso Berensztejn, Amanda, additional, Barroso, Fabio, additional, Lautre, Andrea, additional, Orellana, Lucas G, additional, González-Duarte Briseño, Maria Alejandra, additional, Cárdenas-Soto, Karla, additional, Jiménez López, Brenda Poled, additional, Pérez-Castañeda, Sandra Lorena, additional, Cantú Brito, Carlos Gerardo, additional, Rivera de la Parra, David, additional, Hernandez Reyes, Jose Pablo, additional, del Mar Saniger Alba, Maria, additional, Criollo Mora, Elia, additional, Parman, Yesim, additional, Rezzan, Kus Jülide, additional, Sahin, Erdi, additional, Serbest, Nail G, additional, Durmus, Hacer, additional, Cakar, Arman, additional, Tugal Tutkun, Nuriye Ilknur, additional, Karamursel, Sacit, additional, Elitok, Ali, additional, Sirin Inan, Nermin G, additional, Altinkurt, Emre, additional, Ye, Jing, additional, Allen, Adriane C, additional, Chaudhry, Vinay, additional, Jarrett, Raquel, additional, Bressler, Neil, additional, Burks, Kathleen L, additional, Liu, Qingfeng, additional, Khoshnoodi, Mohammad, additional, Judge, Daniel P, additional, Vista, Geno, additional, Shah, Syed Mahmood, additional, Hamaguchi, Hirotoshi, additional, Oda, Junko, additional, Fukase, Emi, additional, Taniguchi, Ikuko, additional, Oda, Tetsuya, additional, Endo, Hironobu, additional, Shimomura, Masahiro, additional, Katanazaka, Kimitaka, additional, Koto, Shusuke, additional, Nakano, Takahiro, additional, Scheid, Christof, additional, Zueiter, Andreas, additional, Pester, Lars, additional, Walter, Doreen, additional, Özdemir, Betül, additional, Frenzel, Lukas F, additional, Holtick, Udo, additional, Oh, Jeeyoung, additional, Kim, Hee Jin, additional, Shin, Hyun Jin, additional, Choi, Kyomin, additional, Yamashita, Taro, additional, Masuda, Teruaki, additional, Misumi, Yohei, additional, Ueda, Akihiko, additional, Nakahara, Keiichi, additional, Yorita, Akiko, additional, Tsuruhisa, Seiko, additional, Taniwaki, Takayuki, additional, Harada, Masaya, additional, Moritaka, Taiga, additional, Sakurada, Naonori, additional, Mauricio, Elizabeth A, additional, Baskin, Amber, additional, Dimberg, Elliot, additional, Fonder, Amie, additional, Hobbs, Miriam, additional, Russell, Stephen J, additional, Dyck, Peter, additional, Gonsalves, Wilson, additional, Leung, Nelson, additional, Witzig, Thomas E, additional, Zeldenrust, Steven R, additional, Hwa, Lisa, additional, Kapoor, Prashant, additional, Kumar, Shaji K, additional, Lin, Yi, additional, Lust, John A, additional, Rajkumar, Vincent S, additional, Dingli, David, additional, Gertz, Morie A, additional, Go, Ronald, additional, Hayman, Suzanne R, additional, Dalia, Samir, additional, Carrillo, Esmeralda, additional, Gorevic, Peter, additional, Mason, Garnette, additional, Chao, Chi-Chao, additional, Lee, Ming-Jen, additional, Su, Jen-Jen, additional, Hsieh, Sung-Tsang, additional, Tsai, Li-Kai, additional, Yeh, Shin-Joe, additional, Yang, Chih-Chao, additional, Ajroud-Driss, Senda Ajroud-Driss, additional, Casey, Patricia, additional, Joslin, Benjamin C, additional, Freimer, Miriam, additional, Sankey, Alison, additional, Kenepp, Amanda, additional, Heintzman, Sarah, additional, LoRusso, Samantha, additional, Hokezu, Youichi, additional, Kim, Byoung-Joon, additional, Kim, JuHyeon, additional, Lee, Ga Yeon, additional, Cho, Eun Bin, additional, Jeon, Eun-Seok, additional, Min, Ju-Hong, additional, Seok, Jin Myoung, additional, Lee, Hye Lim, additional, Park, Jae Hong, additional, Sekijima, Yoshiki, additional, Miyazawa, Chinatsu, additional, Kato, Nagaaki, additional, Kishida, Dai, additional, Hineno, Akiyo, additional, Kodaira, Minori, additional, Yoshinaga, Tsuneaki, additional, Miyahara, Teruyoshi, additional, Imai, Akira, additional, Matsumoto, Kazuhiko, additional, Lin, Kon-Ping, additional, Lee, Yi-Chung, additional, Falk, Malin, additional, Pilebro, Bjorn, additional, Suhr, Ole, additional, Lindqvist, Per, additional, Soderberg, Karin, additional, Pedrosa-Domellöf, Fatima, additional, Anan, Intissar, additional, Nordh, Erik, additional, Tournev, Ivaylo, additional, Zhelyazkova-Glaveeva, Sashka, additional, Cherneva, Zheyna, additional, Sarafov, Staiko, additional, Chamova, Teodora, additional, Cherninkova-Gopina, Sylvia, additional, Friebel, Frauke, additional, Zibert, Andree, additional, Mihailovic, Natasa, additional, Schubert, Friederike, additional, Vorona, Elena, additional, Lahme, Larissa, additional, Huesing-Kabar, Anna, additional, Schilling, Matthias, additional, Kabar, Iyad, additional, Martinez-Naharro, Ana, additional, Chacko, Liza, additional, Cohen, Oliver, additional, Law, Steven, additional, Rezk, Tamer, additional, Lachmann, Helen J, additional, Blume, Brianna, additional, Dixon, Stacy, additional, Low, Soon Chai, additional, Chan, Soo Looi, additional, Lim, He Eng Li, additional, Goh, Khean Jin, additional, Kraus, Deborah, additional, Jack, Kristin, additional, Wade, N. Kevin, additional, Lopate, Glenn, additional, Zwijack, Brittany, additional, Florence, Julaine, additional, Sommerville, R. Brian, additional, Stewart, Graeme, additional, Ryder, Julie, additional, Mekhael, Linda, additional, Taylor, Mark, additional, Suan, Daniel, additional, Wells, Karen, additional, Stone, Paula, additional, Itoya, Amenze, additional, Owusu-Sekyere, Mercy, additional, Thai, Desmond, additional, Chahine, Ilonah, additional, Pedrosa, Salve, additional, and Do, Thi Hoa (Therese), additional

Published
2021
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35. Structural Connectivity Alterations in Amyotrophic Lateral Sclerosis: A Graph Theory Based Imaging Study

Author

Fortanier, Etienne, Grapperon, Aude-Marie, Le Troter, Arnaud, Verschueren, Annie, Ridley, Ben, Guye, Maxime, Attarian, Shahram, Ranjeva, Jean-Philippe, Zaaraoui, W, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Neuro-Oncologie [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Pôle de Neurosciences Cliniques, Department of Neurology, Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de référence des maladies neuromusculaires et de la SLA, Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - AP-HM] (CEMEREM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE), APHM - AORC Junior 2014 program, ANR-15-CE19-0019,NEUROintraSOD-7T,Nouvelles stratégies pour quantifier in vivo les concentrations cérébrales intracellulaires de sodium par IRM 7T chez l'homme. Application à l'évaluation de la neurodégénérescence corticale et sous-corticale dans la sclérose en plaques(2015), ANR-11-INBS-0006,FLI,France Life Imaging(2011), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM] (CEMEREM), Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre de résonance magnétique biologique et médicale (CRMBM), and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
DTI, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, connectivity, graph theory, hub, ALS, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, MRI
Abstract

International audience; Background: Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disorder. Diffusion magnetic resonance imagining (MRI) studies have consistently showed widespread alterations in both motor and non-motor brain regions. However, connectomics and graph theory based approaches have shown inconsistent results. Hub-centered lesion patterns and their impact on local and large-scale brain networks remain to be established. The objective of this work is to characterize topological properties of structural brain connectivity in ALS using an array of local, global and hub-based network metrics.Materials and methods: Magnetic resonance imagining data were acquired from 25 patients with ALS and 26 age-matched healthy controls. Structural network graphs were constructed from diffusion tensor MRI. Network-based statistics (NBS) and graph theory metrics were used to compare structural networks without a priori regions of interest.Results: Patients with ALS exhibited global network alterations with decreased global efficiency (Eglob) (p = 0.03) and a trend of reduced whole brain mean degree (p = 0.05) compared to controls. Six nodes showed significantly decreased mean degree in ALS: left postcentral gyrus, left interparietal and transverse parietal sulcus, left calcarine sulcus, left occipital temporal medial and lingual sulcus, right precentral gyrus and right frontal inferior sulcus (p < 0.01). Hub distribution was comparable between the two groups. There was no selective hub vulnerability or topological reorganization centered on these regions as the hub disruption index (κ) was not significant for the relevant metrics (degree, local efficiency and betweenness centrality). Using NBS, we identified an impaired motor subnetwork of 11 nodes and 10 edges centered on the precentral and the paracentral nodes (p < 0.01). Significant clinical correlations were identified between degree in the frontal area and the disease progression rate of ALS patients (p < 0.01).Conclusion: Our study provides evidence that alterations of structural connectivity in ALS are primarily driven by node degree and white matter tract degeneration within an extended network around the precentral and the paracentral areas without hub-centered reorganization.

Published
2019

36. iMAX: A new tool for assessment of motor axon excitability. A multicenter prospective study.

Author

Tyberghein, Maelle, Grapperon, Aude-Marie, Bouquiaux, Olivier, Puma, Angela, Attarian, Shahram, and Wang, François Charles

Subjects
*CHRONIC inflammatory demyelinating polyradiculoneuropathy, *AXONS, *GUILLAIN-Barre syndrome, *TRANSCRANIAL direct current stimulation, *STIMULUS intensity, *LONGITUDINAL method, *NERVE grafting
Abstract

• The within and between center variability shows good reliability of the iMAX procedure. • iMAX is fast, non-invasive and measurable at any stimulation point without specific equipment. • In patients with peripheral neuropathy, iMAX allows monitoring excitability changes of motor axon. This study was undertaken to establish by a multicentric approach the reliability of a new technique evaluating motor axon excitability. The minimal threshold, the lowest stimulus intensity allowing a maximal response by 1 mA increments (iUP) and then by 0.1 mA adjustments (iMAX) were prospectively derived from three nerves (median, ulnar, fibular) in four university centers (Liège, Marseille, Fraiture, Nice). iMAX procedure was applied in 28 healthy volunteers (twice) and 32 patients with Charcot-Marie-Tooth (CMT1a), chronic inflammatory demyelinating polyneuropathy (CIDP), Guillain-Barré syndrome (SGB) or axonal neuropathy. Healthy volunteers results were not significantly different between centers. Correlation coefficients between test and retest were moderate (> 0.5). Upper limits of normal were established using the 95th percentile. Comparison of volunteers and patient groups indicated significant increases in iMAX parameters especially for the CMT1a and CIDP groups. In CMT1a, iMAX abnormalities were homogeneous at the three stimulation sites, which was not the case for CIDP. The iMAX procedure is reliable and allows the monitoring of motor axon excitability disorders. The iMAX technique should prove useful to monitor motor axonal excitability in routine clinical practice as it is a fast, non-invasive procedure, easily applicable without specific software or devices. [ABSTRACT FROM AUTHOR]

Published
2022
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37. Quantitative muscle MRI study of patients with sporadic inclusion body myositis

Author

Ansari, Behnaz, primary, Salort‐Campana, Emmanuelle, additional, Ogier, Augustin, additional, Le Troter PhD, Arnaud, additional, De Sainte Marie, Benjamin, additional, Guye, Maxime, additional, Delmont, Emilien, additional, Grapperon, Aude‐Marie, additional, Verschueren, Annie, additional, Bendahan, David, additional, and Attarian, Shahram, additional

Published
2020
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39. Comparison of MRI and motor evoked potential with triple stimulation technique for the detection of brachial plexus abnormalities in multifocal motor neuropathy.

Author

Corazza, Giovanni, Le Corroller, Thomas, Grapperon, Aude‐Marie, Salort‐Campana, Emmanuelle, Verschueren, Annie, Attarian, Shahram, Delmont, Emilien, Grapperon, Aude-Marie, and Salort-Campana, Emmanuelle

Subjects
EVOKED potentials (Electrophysiology), MOTOR neuron diseases, MAGNETIC resonance imaging, NEURAL conduction, POLYNEUROPATHIES, ELECTRIC stimulation, BRACHIAL plexus
Abstract

Background: Conduction blocks (CB) are the diagnostic hallmark of multifocal motor neuropathy (MMN). Conventional nerve conduction studies cannot detect CB above Erb's point. Our purpose was to compare the performance of the motor evoked potential with triple stimulation technique (MEP-TST) and MRI in the detection of abnormalities of the brachial plexus.Methods: Examinations were performed on 26 patients with MMN (11 definite, 6 probable, 9 possible), of whom 7 had no CB.Results: MEP-TST detected proximal CB in 19/26 patients. Plexus MRI showed T2 hyperintensity in 18/26 patients, with nerve enlargement in 14/18. A combination of both techniques increased the detection rate of brachial plexus abnormalities to 96% of patients (25/26).Conclusions: MEP-TST and MRI have high sensitivities for detecting brachial plexus abnormalities. A combination of the two techniques increases the detection rate of supportive criteria for the diagnosis of MMN. [ABSTRACT FROM AUTHOR]

Published
2020
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40. 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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44. From medulla to lower cervical levels, a multi-parametric quantitative MR investigation dedicated to the diffuse alterations of the spinal cord at 7T: first insights into Amyotrophic Lateral Sclerosis

Author

Massire, Aurélien, Rasoanandrianina, Henitsoa, Feiweier, Thorsten, Taso, Manuel, Grapperon, Aude-Marie, Attarian, Shahram, Guye, Maxime, Ranjeva, Jean-Philippe, Verschueren, Annie, Callot, Virginie, Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), BERNARD, Monique, and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, [INFO.INFO-IM] Computer Science [cs]/Medical Imaging, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging
Abstract

International audience; Amyotrophic lateral sclerosis (ALS) may benefit from unique contrasts and high-spatial resolutions provided by ultra-high field brain MRI. This also stands for spinal cord; nevertheless spinal cord imaging at 7T has lagged considerably behind brain investigations until recently. In this work, we propose a multi-parametric quantitative MR imaging protocol (T_\textrm1, T_\textrm2*, DTI, CSA), in an acquisition time compatible with clinical research (50min), to comprehensively investigate spinal cord diffuse alterations in neurodegenerative diseases such as ALS. With imaging along the whole cervical cord and medulla, theses multi-parametric acquisitions have the potential to provide new insights for the study of ALS.

Published
2017

45. Sodium accumulation in primary motor areas, an early feature of amyotrophic lateral sclerosis patients

Author

Grapperon, Aude-Marie, Verschueren, Annie, Maarouf, Adil, Pini, Lauriane, Confort-Gouny, Sylviane, Ranjeva, Jean-Philippe, Guye, Maxime, Attarian, Shahram, Zaaraoui, W, Hôpital Maison Blanche, Centre Hospitalier Universitaire de Reims (CHU Reims), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), and BERNARD, Monique

Subjects
[SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, [INFO.INFO-IM] Computer Science [cs]/Medical Imaging, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging
Abstract

International audience; Amyotrophic lateral sclerosis (ALS) is a rapidly fatal neurodegenerative disease characterized by upper (in brain) and lower (in spine) motor neuron degeneration. As conventional MRI fails to show brain motor neurons impairment in ALS, advanced techniques are needed to improve the diagnosis and to monitor the progression of the disease. In this study, brain ^\textrm23Na MRI was applied in 15 ALS patients and 31 controls. A common pattern of sodium accumulation was found in patients in the primary motor areas while no atrophy was detected. The occurrence of sodium accumulation without atrophy probably reflects early neuronal injury in ALS.

Published
2017

47. Guillain-Barré syndrome subtype diagnosis: A prospective multicentric European study.

Author

Van den Bergh, Peter Y. K., Piéret, Françoise, Woodard, John L., Attarian, Shahram, Grapperon, Aude‐Marie, Nicolas, Guillaume, Brisset, Marion, Cassereau, Julien, Rajabally, Yusuf A., Van Parijs, Vinciane, Verougstraete, Donatienne, Jacquerye, Philippe, Raymackers, Jean‐Marc, Redant, Céline, Michel, Claure, Delmont, Emilien, The University of Louvain GBS Electrodiagnosis Study Group, Grapperon, Aude-Marie, Raymackers, Jean-Marc, and University of Louvain GBS Electrodiagnosis Study Group

Abstract

Introduction: There is uncertainty as to whether the Guillain-Barré syndrome (GBS) subtypes, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN), can be diagnosed electrophysiologically.Methods: We prospectively included 58 GBS patients. Electrophysiology was performed at means of 5 and 33 days after disease onset. Two traditional and one recent criteria sets were used to classify studies as demyelinating or axonal. Results were correlated with anti-ganglioside antibodies and reversible conduction failure (RCF).Results: No classification shifts were observed, but more patients were classified as axonal with recent criteria. RCF and anti-ganglioside antibodies were present in both subtypes, more frequently in the axonal subtype.Discussion: Serial electrophysiology has no effect on GBS subtype proportions. The absence of exclusive correlation with RCF and anti-ganglioside antibodies may challenge the concept of demyelinating and axonal GBS subtypes based upon electrophysiological criteria. Frequent RCF indicates that nodal/paranodal alterations may represent the main pathophysiology. This article is protected by copyright. All rights reserved. [ABSTRACT FROM AUTHOR]

Published
2018
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48. Region‐specific impairment of the cervical spinal cord (SC) in amyotrophic lateral sclerosis: A preliminary study using SC templates and quantitative MRI (diffusion tensor imaging/inhomogeneous magnetization transfer)

Author

Rasoanandrianina, Henitsoa, primary, Grapperon, Aude‐Marie, additional, Taso, Manuel, additional, Girard, Olivier M., additional, Duhamel, Guillaume, additional, Guye, Maxime, additional, Ranjeva, Jean‐Philippe, additional, Attarian, Shahram, additional, Verschueren, Annie, additional, and Callot, Virginie, additional

Published
2017
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49. Impact of a frequent nearsplice SOD1variant in amyotrophic lateral sclerosis: optimising SOD1genetic screening for gene therapy opportunities

Author

Muratet, Francois, Teyssou, Elisa, Chiot, Aude, Boillée, Séverine, Lobsiger, Christian S, Bohl, Delphine, Gyorgy, Beata, Guegan, Justine, Marie, Yannick, Amador, Maria del Mar, Salachas, Francois, Meininger, Vincent, Bernard, Emilien, Antoine, Jean-Christophe, Camdessanché, Jean-Philippe, Camu, William, Cazeneuve, Cécile, Fauret-Amsellem, Anne-Laure, Leguern, Eric, Mouzat, Kevin, Guissart, Claire, Lumbroso, Serge, Corcia, Philippe, Vourc'h, Patrick, Grapperon, Aude-Marie, Attarian, Shahram, Verschueren, Annie, Seilhean, Danielle, and Millecamps, Stéphanie

Abstract

ObjectiveMutations in superoxide dismutase 1 gene (SOD1), encoding copper/zinc superoxide dismutase protein, are the second most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) motor neuron disease in populations of European descent. More than 200 missense variants are reported along the SOD1 protein. To limit the production of these aberrant and deleterious SOD1 species, antisense oligonucleotide approaches have recently emerged and showed promising effects in clinical trials. To offer the possibility to any patient with SOD1-ALS to benefit of such a gene therapy, it is necessary to ascertain whether any variant of unknown significance (VUS), detected for example in SOD1non-coding sequences, is pathogenic.MethodsWe analysed SOD1 mutation distribution after SOD1 sequencing in a large cohort of 470 French familial ALS (fALS) index cases.ResultsWe identified a total of 27 SOD1 variants in 38 families including two SOD1 variants located in nearsplice or intronic regions of the gene. The pathogenicity of the c.358–10T>G nearsplice SOD1variant was corroborated based on its high frequency (as the second most frequent SOD1 variant) in French fALS, the segregation analysis confirmed in eight affected members of a large pedigree, the typical SOD1-related phenotype observed (with lower limb onset and prominent lower motor neuron involvement), and findings on postmortem tissues showing SOD1 misaccumulation.ConclusionsOur results highlighted nearsplice/intronic mutations in SOD1are responsible for a significant portion of French fALS and suggested the systematic analysis of the SOD1mRNA sequence could become the method of choice for SOD1screening, not to miss these specific cases.

Published
2021
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50. Global motor unit number index sum score for assessing the loss of lower motor neurons in amyotrophic lateral sclerosis.

Author

Grimaldi, Stephan, Duprat, Lauréline, Grapperon, Aude‐Marie, Verschueren, Annie, Delmont, Emilien, Attarian, Shahram, Duprat, Lauréline, and Grapperon, Aude-Marie

Subjects
MOTOR neurons, AMYOTROPHIC lateral sclerosis, ELECTROMYOGRAPHY, EVOKED potentials (Electrophysiology), REGRESSION analysis, SEVERITY of illness index, SKELETAL muscle, PHYSIOLOGY
Abstract

Introduction: We propose a motor unit number index (MUNIX) global sum score in amyotrophic lateral sclerosis (ALS) to estimate the loss of functional motor units.Methods: MUNIX was assessed for 18 ALS patients and 17 healthy controls in 7 muscles: the abductor pollicis brevis (APB), abductor digiti minimi (ADM), tibialis anterior (TA), deltoid, trapezius, submental complex, and orbicularis oris.Results: MUNIX was significantly lower in ALS patients than in healthy controls for the APB, ADM, TA, and trapezius muscles. The MUNIX sum score of 4 muscles (ADM + APB + trapezius + TA) was lower in ALS patients (P = 0.01) and was correlated with clinical scores.Discussion: The global MUNIX sum score proposed in this study estimates the loss of lower motor neurons in several body regions, including the trapezius, and is correlated with clinical impairment in ALS patients. Muscle Nerve 56: 202-206, 2017. [ABSTRACT FROM AUTHOR]

Published
2017
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