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376 results on '"Nadaj-Pakleza A"'

1. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

Author: Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi
Published: 2024
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2. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Author: Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi
Published: 2023
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3. Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study

Author: Chanson, Jean-Baptiste, Bouhour, Françoise, Aubé-Nathier, Anne-Catherine, Mallaret, Martial, Vial, Christophe, Hacquard, Aurélien, Petiot, Philippe, Spinazzi, Marco, Nadaj-Pakleza, Aleksandra, and Echaniz-Laguna, Andoni
Published: 2023
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4. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Author: Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George, Warman-Chardon, Jodi, Claeys, Kristl, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay, Nair, Sruthi, Manousakis, Georgios, Kushlaf, Hani, Harms, Matthew, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria, Lamont, Phillipa, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, and Diaz-Manera, Jordi
Subjects: FRONTOTEMPORAL DEMENTIA, GENETICS, INCL BODY MYOSITIS, MUSCLE DISEASE, MYOPATHY
Abstract: BACKGROUND: Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Pagets disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. METHODS: Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. RESULTS: Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8±9.6 years and mean age of onset 45.6±9.3 years. Mean diagnostic delay was 7.7±6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8±7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC
Published: 2022

5. Defining the landscape of TIA1 and SQSTM1 digenic myopathy

Author: Panos-Basterra, Paula, Theuriet, Julian, Nadaj-Pakleza, Aleksandra, Magot, Armelle, Lannes, Beatrice, Marcorelles, Pascale, Behin, Anthony, Masingue, Marion, Caillon, Florence, Malek, Yannis, Fenouil, Tanguy, Bas, Joaquim, Menassa, Rita, Michel-Calemard, Laurence, Streichenberger, Nathalie, Simon, Jean-Philippe, Bouhour, Francoise, Evangelista, Teresinha, Métay, Corinne, Pegat, Antoine, Stojkovic, Tanya, and Fernández-Eulate, Gorka
Published: 2024
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6. The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability

Author: Marion Onnée, Audrey Bénézit, Sultan Bastu, Aleksandra Nadaj-Pakleza, Béatrice Lannes, Flavie Ader, Corinne Thèze, Pascal Cintas, Claude Cances, Robert-Yves Carlier, Corinne Metay, Mireille Cossée, and Edoardo Malfatti
Subjects: cardiomyopathy, myopathy, FLNC, mutation, Biology (General), QH301-705.5
Abstract: Filamin C-related disorders include myopathies and cardiomyopathies linked to variants in the FLNC gene. Filamin C belongs to a family of actin-binding proteins involved in sarcomere stability. This study investigates the pathogenic impact of the FLNC c.3557C > T (p.Ala1186Val) pathogenic variant associated with an early-onset cytoplasmic body myopathy and cardiomyopathy in three unrelated patients. We performed clinical imaging and myopathologic and genetic characterization of three patients with an early-onset myopathy and cardiomyopathy. Bioinformatics analysis, variant interpretation, and protein structure analysis were performed to validate and assess the effects of the filamin C variant. All patients presented with a homogeneous clinical phenotype marked by a severe contractural myopathy, leading to loss of gait. There was prominent respiratory involvement and restrictive or hypertrophic cardiomyopathies. The Ala1186Val variant is located in the interstrand loop involved in intradomain stabilization and/or interdomain interactions with neighbor Ig-like domains. 3D modeling highlights local structural changes involving nearby residues and probably impacts the protein stability, causing protein aggregation in the form of cytoplasmic bodies. Myopathologic studies have disclosed the prominent aggregation and upregulation of the aggrephagy-associated proteins LC3B and p62. As a whole, the Ala1186Val variant in the FLNC gene provokes a severe myopathy with contractures, respiratory involvement, and cardiomyopathy due to protein aggregation in patients’ muscles.
Published: 2024
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7. In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case–control study

Author: Jérémie Sellam, Laurent Arnaud, Marta Mosca, Florenzo Iannone, Luca Diamanti, Luca Iaccarino, Aurélien Guffroy, Jacques-Eric Gottenberg, Veronica Codullo, Alain Meyer, Simone Barsotti, Jelena Blagojevic, Lorenzo Cavagna, François Séverac, Bernard Geny, Jean Sibilia, Marie Hudson, François Maurier, Benjamin Terrier, Silvia Bellando-Randone, Emanuelle Dernis, Carlotta Nannini, Marion Couderc, Anne Tournadre, Jean Jacques Dubost, Albert Selva-O'Callaghan, Claire de Moreuil, Giacomo Emmi, Baptiste Hervier, Guilhem Sole, Philippe Guilpain, Jean-François Viallard, Aleksandra Nadaj-Pakleza, Enrico Marchioni, Monica Groza, Sergio Prieto-González, Nicolas Poursac, Isabelle Guichard, Kubéraka Mariampillai, Yves Troyanov, Luc Pijnenburg, Antoine Soulages, Jean-Marc Galempoix, Margherita Giannini, Maude Bouchard-Marmen, Livio Bernardi, Paola Bini, Fanny Duval, Delphine Lebrun, Jean-Maxime Piot, Eglantine Rouanet, Nathalie Vernier, Veronique Vesperini, and Rahima Ziane
Subjects: Medicine
Abstract: Background Some myopathies can lead to dropped head or bent spine syndrome (DH/BS). The significance of this symptom has not been studied in inflammatory myopathies (IM).Objectives To assess the significance of DH/BS in patients with IM.Methods Practitioners from five IM networks were invited to report patients with IM suffering from DH/BS (without other known cause than IM). IM patients without DH/BS, randomly selected in each participating centre, were included as controls at a ratio of 2 to 1.Results 49 DH/BS-IM patients (DH: 57.1%, BS: 42.9%) were compared with 98 control-IM patients. DH/BS-IM patients were older (65 years vs 53 years, p
Published: 2023
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8. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Author: Genge, Angela, Massie, Rami, Berube, Maxime, Bril, Vera, Daniyal, Lubna, Mannan, Shabber, Ng, Eduardo, Raman, Ritesh Rohan Raghu, Sarpong, Evelyn, Alcantara, Monica, Dionne, Annie, Siddiqi, Zaeem, Blackmore, Derrick, Hussain, Faraz, Matte, Genevieve, Botez, Stephan, Tyblova, Michaela, Jakubikova, Michala, Junkerova, Jana, Vissing, John, Witting, Nanna, Holm-Yildiz, Sonja, Stemmerik, Mads, Andersen, Henning, Obál, Izabella, Solé, Guilhem, Mathis, Stéphane, Violleau, Marie-Hélène, Tranchant, Christine, Messai, Sihame, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Verloes, Arnaud, Zaidi, Leila, Sacconi, Sabrina, Gambella, Manuela, Cavalli, Michele, Stojkovic, Tanya, Demeret, Sophie, Le Guennec, Loic, Querin, Giorgia, Weiss, Nicolas, Masingue, Marion, Magy, Laurent, Ghorab, Karima, Rukhadze, Ia, Tsiskaridze, Alexander, Janelidze, Marina, Margania, Temur, Then Bergh, Florian, Hänsel, Eike, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Teußer, Lars-Malte, Unterlauft, Astrid, Goedel, Clemens, Hagenacker, Tim, Totzeck, Andreas, Stolte, Benjamin, Blaes, Franz, Bindler, Christine, Tsoutsikas, Vasilios, Roediger, Annekathrin, Geis, Christian, Schmidt, Jens, Zschüntzsch, Jana, Schwarz, Margret, Meyer, Stefanie, Kummer, Karsten, Glaubitz, Stefanie, Zeng, Rachel, Wiendl, Heinz, Klotz, Luisa, Lammerskitten, Anna, Lünemann, Jan, Diószeghy, Péter, Mantegazza, Renato, Maggi, Lorenzo, Rinaldi, Elena, Gastaldi, Matteo, Mazzacane, Federico, Businaro, Pietro, Iorio, Raffaele, Antonini, Giovanni, Fionda, Laura, Rinaldi, Rita, Rossi, Simone, Habetswallner, Francesco, Tuccillo, Francesco, Umehara, Haruna, Uenaka, Eiko, Takahashi, Masanori, Higashi, Keiko, Kinoshita, Makoto, Yoneda, Emika, Nakamura, Noriko, Fujita, Saeka, Kubota, Tomoya, Ono, Masami, Yamamoto, Sana, Hatano, Taku, Oikoshi, Kazuki, Yokoyama, Kazumasa, Oji, Yutaka, Tomizawa, Yuji, Uzawa, Akiyuki, Yasuda, Manato, Akita, Sachiko, Ozawa, Yukiko, Onishi, Yosuke, Takaki, Miki, Yamada, Hiromi, Minemoto, Kanako, Sanko, Miki, Izawa, Nanae, Nakayama, Mayumi, Masuda, Masayuki, Tsuji, Rune, Ido, Nobuhiro, Hyodo, Yumi, Okubo, Yoshihiko, Minohara, Akiko, Haraguchi, Nana, Naito, Makiko, Yoshida, Seiko, Fukushige, Yuri, Tsujino, Akira, Nagaoka, Atsushi, Miyazaki, Teiichiro, Yoshimura, Shunsuke, Hirayama, Takuro, Shima, Tomoaki, Okamoto, Naoko, Matsumoto, Riki, Sekiguchi, Kenji, Ueda, Takehiro, Chihara, Norio, Kirimura, Mari, Sunagawa, Emi, Suzuki, Ayaka, Suzuki, Shigeaki, Wada, Aozora, Ishizuchi, Kei, Suzuki, Yasushi, Yata, Mitsuo, Komatsu, Yuka, Tsukita, Kenichi, Watanabe, Genya, Sato, Kazuki, Kawasaki, Emiko, Yamamoto, Naoki, Ono, Hirohiko, Tsuda, Tomoko, Ohashi, Shigeki, Utsugisawa, Kimiaki, Fujisawa, Yuka, Yokota, Yumiko, Nagane, Yuriko, Ayumi, Kameda, Takematsu, Yuka, Naito, Hiroyuki, Sugimoto, Takamichi, Kuwada, Kumiko, Rejdak, Konrad, Szklener, Sebastian, Kitowska, Monika, Derkacz, Kandyda, Druzdz, Artur, Berkowicz, Tomasz, Budzinska, Paulina, Halas, Marek, Zaslavskiy, Leonid, Skornyakova, Evgeniya, Kotov, Sergey, Novikova, Ekaterina, Sidorova, Olga, Goldobin, Vitalii, Alekseeva, Tatiana, Isabekova, Patimat, Malkova, Nadezhda, Korobko, Denis, Djordjevic, Gordana, Stojanov, Aleksandar, Peric, Stojan, Lavrnic, Dragana, Bozovic, Ivo, Palibrk, Aleksa, Casasnovas, Carlos, Nedkova-Hristova, Velina, Vidal Fernández, Nuria, Cortés Vicente, Elena, Querol Gutiérrez, Luis, Salvadó Figueras, Maria, Canovas Segura, Anna, Juntas Morales, Raúl, Sanchez Tejerina, Daniel, Saiz, Albert, Blanco Morgado, Yolanda, Llufriú Durán, Sara, Sepúlveda Gázquez, María, Martínez Hernández, Eugenia María, Gutiérrez Gutiérrez, Gerardo, Iniesta, Paqui, Meca Lallana, José, Guo, Yuh-Cherng, Chiu, Hou-Chang, Yeh, Jiann-Horng, Chen, Ya Hui, Lee, Mei Fen, Lee, Yi-Chung, Lai, Kuan Lin, Beydoun, Said, Akhter, Salma, Vu, Tuan, Lam, Lucy, Thomas, Alisha, Rivner, Michael, Quarles, Brandy, Lange, Dale, Holzberg, Shara, Pavlakis, Pantelis, Goutham, Ashwathy, Kaminski, Henry, Aly, Radwa, Ashworth, Lisa, Bender, Kathryn, Bond, Karie, Buckner, Joanne, Byerly, Sara, Caress, James, Clemons, Jessyca, Farmer, Asha, Franklin, Catherine, Harris, Summer, Hiatt, Meredith, Gandhi Mehta, Rachana, Miller, Gina, Smith, Lynn, Smith, Rose, Strittmatter, Brian, Mozaffar, Tahseen, Habib, Ali A, Hernandez, Isela, Moulton, Kelsey, Karam, Chafic, Ravikumar, Pranali, Lomen-Hoerth, Catherine, Rosow, Laura, George, Hannah, Irodenko, Viktoriya, Kang, Min, Denny, Carol, Hanson, Bart, Klein, Sara, Martinez-Thompson, Jennifer, Naddaf, Elie, Padgett, Denny, Sorenson, Eric, L Sultze, Jane, Weis, Delena, Rezania, Kourosh, Thonhoff, Jason, Shroff, Sheetal, Pascuzzi, Robert, Micheels, Angela, Bodkin, Cynthia, Comer, Adam, Baras, Gelasio, Wagner, Renee, Mahuwala, Zabeen, Ryan, Stephen, Su, Kai, Sharma, Khema, Brown, Andrew, Liow, Kore, Drużdż, Artur, Grosskreutz, Julian, Boehnlein, Marion, Bozorg, Ali, Gayfieva, Maryam, Greve, Bernhard, Woltering, Franz, and Kaminski, Henry J
Published: 2023
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9. Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study

Author: Sembinelli, Dylan, Teitelbaum, Jeanne, Nicolle, Michael, Bernard, Emilien, Svahn, Juliette, Spinazzi, Marco, Stojkovic, Tanya, Demeret, Sophie, Weiss, Nicolas, Le Guennec, Loïc, Messai, Sihame, Tranchant, Christine, Nadaj-Pakleza, Aleksandra, Chanson, Jean-Baptiste, Suliman, Muhtadi, Zaidi, Leila, Tard, Celine, Lecointe, Peggy, Zschüntzsch, Jana, Schmidt, Jens, Glaubitz, Stefanie, Zeng, Rachel, Scholl, Matthias, Kowarik, Markus, Ziemann, Ulf, Krumbholz, Markus, Martin, Pascal, Ruschil, Christoph, Dünschede, Jutta, Kemmner, Roswitha, Rumpel, Natalie, Berger, Benjamin, Totzeck, Andreas, Hagenacker, Tim, Stolte, Benjamin, Iorio, Raffaele, Evoli, Amelia, Falso, Silvia, Antozzi, Carlo, Frangiamore, Rita, Vanoli, Fiammetta, Rinaldi, Elena, Deguchi, Kazushi, Minami, Naoya, Nagane, Yuriko, Suzuki, Yasushi, Ishida, Sayaka, Suzuki, Shigeaki, Nakahara, Jin, Nagaoka, Astushi, Yoshimura, Shunsuke, Konno, Shingo, Tsuya, Youko, Uzawa, Akiyuki, Kubota, Tomoya, Takahashi, Masanori, Okuno, Tatsusada, Murai, Hiroyuki, Gilhus, Nils Erik, Boldingh, Marion, Rønning, Tone Hakvåg, Chyrchel-Paszkiewicz, Urszula, Kumor, Klaudiusz, Zielinski, Tomasz, Banaszkiewicz, Krzysztof, Błaż, Michał, Kłósek, Agata, Świderek-Matysiak, Mariola, Szczudlik, Andrzej, Paśko, Aneta, Szczechowski, Lech, Banach, Marta, Ilkowski, Jan, Kapetanovic Garcia, Solange, Ortiz Bagan, Patricia, Belén Cánovas Segura, Ana, Turon Sans, Joana, Vidal Fernandez, Nuria, Cortes Vicente, Elena, Rodrigo Armenteros, Patricia, Ashraghi, Mohammad, Cavey, Ana, Haslam, Liam, Emery, Anna, Liow, Kore, Yegiaian, Sharon, Barboi, Alexandru, Vazquez, Rosa Maria, Lennon, Joshua, Pascuzzi, Robert M, Bodkin, Cynthia, Guingrich, Sandra, Comer, Adam, Bromberg, Mark, Janecki, Teresa, Saba, Sami, Tellez, Marco, Elsheikh, Bakri, Freimer, Miriam, Heintzman, Sarah, Govindarajan, Raghav, Guptill, Jeffrey, Massey, Janice M, Juel, Vern, Gonzalez, Natalia, Habib, Ali A, Mozaffar, Tahseen, Korb, Manisha, Goyal, Namita, Machemehl, Hannah, Manousakis, Georgios, Allen, Jeffrey, Harper, Emily, Farmakidis, Constantine, Saavedra, Lilli, Dimachkie, Mazen, Pasnoor, Mamatha, Akhter, Salma, Beydoun, Said, McIlduff, Courtney, Nye, Joan, Roy, Bhaskar, Munro Sheldon, Bailey, Nowak, Richard, Barnes, Benjamin, Rivner, Michael, Suresh, Niraja, Shaw, Jessica, Harvey, Brittany, Lam, Lucy, Thomas, Nikki, Chopra, Manisha, Traub, Rebecca E, Jones, Sarah, Wagoner, Mary, Smajic, Sejla, Aly, Radwa, Katz, Jonathan, Chen, Henry, Miller, Robert G, Jenkins, Liberty, Khan, Shaida, Khatri, Bhupendra, Sershon, Lisa, Pavlakis, Pantelis, Holzberg, Shara, Li, Yuebing, Caristo, Irys B, Marquardt, Robert, Hastings, Debbie, Rube, Jacob, Lisak, Robert P, Choudhury, Aparna, Ruzhansky, Katherine, Sachdev, Amit, Shin, Susan, Bratton, Joan, Fetter, Mary, McKinnon, Naya, McKinnon, Jonathan, Sissons-Ross, Laura, Sahu, Amos, Distad, B Jane, Howard, James F, Jr, Bresch, Saskia, Genge, Angela, Hewamadduma, Channa, Hinton, John, Hussain, Yessar, Juntas-Morales, Raul, Kaminski, Henry J, Maniaol, Angelina, Mantegazza, Renato, Masuda, Masayuki, Sivakumar, Kumaraswamy, Śmiłowski, Marek, Utsugisawa, Kimiaki, Vu, Tuan, Weiss, Michael D, Zajda, Małgorzata, Boroojerdi, Babak, Brock, Melissa, de la Borderie, Guillemette, Duda, Petra W, Lowcock, Romana, Vanderkelen, Mark, and Leite, M Isabel
Published: 2023
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10. Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey

Author: Vicart, S., primary, Péréon, Y., additional, Ghorab, K., additional, Pegat, A., additional, Dufresne, R., additional, Zozulya-Weidenfeller, A., additional, Noury, J.-B., additional, Nadaj-Pakleza, A., additional, Tard, C., additional, and Sacconi, S., additional
Published: 2024
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11. Hypersomnolence et maladie de Steinert : étude observationnelle d’une cohorte strasbourgeoise sur les pratiques de soin en vie réelle

Author: Tacchi, Gaetano, primary, Ruppert, Elisabeth, additional, Chanson, Jean-Baptiste, additional, Tranchant, Christine, additional, and Nadaj-pakleza, Aleksandra, additional
Published: 2024
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12. Efficacité et tolérance du rituximab chez des patients atteints de myasthénie auto-immune dans une une cohorte strasbourgeoise

Author: Paumier, Manon, primary, Bigaut, Kévin, additional, Nadaj-Pakleza, Aleksandra, additional, de Sèze, Jérôme, additional, and Kremer, Laurent, additional
Published: 2024
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13. Dystrophies musculaires des ceintures associées aux mutations de TRIM32 : cohorte française et revue de la littérature

Author: Guérémy, Alexandre, primary, Salort-Campana, Emmanuelle, additional, Fortanier, Etienne, additional, Magot, Armelle, additional, Bouhour, Françoise, additional, Solé, Guilhem, additional, Noury, Jean-Baptiste, additional, Behin, Anthony, additional, France, Leturcq, additional, Stojkovic, Tanya, additional, du Closel, Luce Barbat, additional, Sacconi, Sabrina, additional, Metay, Corinne, additional, Gorokhova, Svetlana, additional, Attarian, Shahram, additional, Nadaj-pakleza, Aleksandra, additional, Cerino, Mathieu, additional, Eymard, Bruno, additional, and Juliette, Nectoux, additional
Published: 2024
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14. A rise in cases of nitrous oxide abuse: neurological complications and biological findings

Author: Einsiedler, Maximilian, Voulleminot, Paul, Demuth, Stanislas, Kalaaji, Pauline, Bogdan, Thomas, Gauer, Lucas, Reschwein, Cécile, Nadaj-Pakleza, Aleksandra, de Sèze, Jérôme, Kremer, Laurent, Schroder, Ivana, and Bigaut, Kévin
Published: 2022
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15. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Author: Sanson, Benoît, Stalens, Caroline, Guien, Céline, Villa, Luisa, Eng, Catherine, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Cintas, Pascal, Solé, Guilhem, Tiffreau, Vincent, Echaniz-Laguna, Andoni, Magot, Armelle, Juntas Morales, Raul, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Jacquin-Piques, Agnès, Béroud, Christophe, and Sacconi, Sabrina
Published: 2022
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16. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Author: Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, and The French FSHD registry collaboration group
Subjects: Medicine
Abstract: Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care. National FSHD registries have been set up to this end. The French National Registry of FSHD combines a clinical evaluation form (CEF) and a self-report questionnaire (SRQ), filled out by a physician with expertise in neuromuscular dystrophies and by the patient, respectively. Aside from favoring recruitment, our strategy was devised to improve data quality. Indeed, the pairwise comparison of data from 281 patients for 39 items allowed for evaluating data accuracy. Kappa or intra-class coefficient (ICC) values were calculated to determine the correlation between answers provided in both the CEF and SRQ. Results Patients and physicians agreed on a majority of questions common to the SRQ and CEF (24 out of 39). Demographic, diagnosis- and care-related questions were generally answered consistently by the patient and the medical practitioner (kappa or ICC values of most items in these groups were greater than 0.8). Muscle function-related items, i.e. FSHD-specific signs, showed an overall medium to poor correlation between data provided in the two forms; the distribution of agreements in this section was markedly spread out and ranged from poor to good. In particular, there was very little agreement regarding the assessment of facial motricity and the presence of a winged scapula. However, patients and physicians agreed very well on the Vignos and Brooke scores. The report of symptoms not specific to FSHD showed general poor consistency. Conclusions Patient and physician answers are largely concordant when addressing quantitative and objective items. Consequently, we updated collection forms by relying more on patient-reported data where appropriate. We hope the revised forms will reduce data collection time while ensuring the same quality standard. With the advent of artificial intelligence and automated decision-making, high-quality and reliable data are critical to develop top-performing algorithms to improve diagnosis, care, and evaluate the efficiency of upcoming treatments.
Published: 2022
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17. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Author: Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, and Shahram Attarian
Subjects: Neuromuscular diseases, COVID-19, Risk factor, Prognosis, Medicine
Abstract: Abstract Background Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patients and the risk factors for its impact and severity during the first wave of the pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 and May 11, 2020 in an anonymous survey carried out by expert physicians from the French Health Care Network Filnemus. Results Physicians reported 84 patients, including: 34 with myasthenia gravis, 27 with myopathy and 23 with neuropathy. COVID-19 had no effect on NMD for 48 (58%) patients and 48 (58%) patients developed low COVID-19 severity. COVID-19 caused the death of 9 (11%) NMD patients. Diabetic patients were at greater risk of dying. Patients with diabetes, hypertension or severe forms of NMD had a higher risk of developing a moderate or severe form of COVID-19. In our cohort, corticosteroids and other immunosuppressants were not significantly associated with higher COVID-19 severity for acquired NMD. Conclusion During this period, a small percentage of French NMD patients was affected by COVID-19 compared to the general French population and COVID-19 had a limited short-term effect on them. Diabetes, hypertension and a severe degree of NMD were identified as risk factors of unfavorable outcome following COVID-19. Conversely, in our cohort of patients with acquired NMD, corticosteroids or other immunosuppressants did not appear to be risk factors for more severe COVID-19.
Published: 2021
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18. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author: Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi, Kishnani, Priya S, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, and Schoser, Benedikt
Published: 2021
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19. Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study

Author: Vicart, Savine, Franques, Jérôme, Bouhour, Françoise, Magot, Armelle, Péréon, Yann, Sacconi, Sabrina, Nadaj-Pakleza, Aleksandra, Behin, Anthony, Zahr, Noël, Hézode, Marianne, Fournier, Emmanuel, Payan, Christine, Lacomblez, Lucette, and Fontaine, Bertrand
Published: 2021
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20. The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability

Author: Onnée, Marion, primary, Bénézit, Audrey, additional, Bastu, Sultan, additional, Nadaj-Pakleza, Aleksandra, additional, Lannes, Béatrice, additional, Ader, Flavie, additional, Thèze, Corinne, additional, Cintas, Pascal, additional, Cances, Claude, additional, Carlier, Robert-Yves, additional, Metay, Corinne, additional, Cossée, Mireille, additional, and Malfatti, Edoardo, additional
Published: 2024
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21. Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Author: Montaut, Solveig, Diedhiou, Nadège, Fahrer, Pauline, Marelli, Cécilia, Lhermitte, Benoit, Robelin, Laura, Vincent, Marie Claire, Corti, Lucas, Taieb, Guillaume, Gebus, Odile, Rudolf, Gabrielle, Tarabeux, Julien, Dondaine, Nicolas, Canuet, Matthieu, Almeras, Marilyne, Benkirane, Mehdi, Larrieu, Lise, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Echaniz-Laguna, Andoni, Cauquil, Cécile, Lannes, Béatrice, Chelly, Jamel, Anheim, Mathieu, Puccio, Hélène, and Tranchant, Christine
Published: 2021
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22. Respiratory decline in adult patients with Becker muscular dystrophy: A longitudinal study

Author: De Wel, Bram, Willaert, Sofie, Nadaj-Pakleza, Aleksandra, Aubé-Nathier, Anne-Catherine, Testelmans, Dries, Buyse, Bertien, and Claeys, Kristl G.
Published: 2021
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23. Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available

Author: Rouyer, Alice, primary, Tard, Céline, additional, Dessein, Anne‐Frédérique, additional, Spinazzi, Marco, additional, Bédat‐Millet, Anne‐Laure, additional, Dimitri‐Boulos, Dalia, additional, Nadaj‐Pakleza, Aleksandra, additional, Chanson, Jean‐Baptiste, additional, Nicolas, Guillaume, additional, Douillard, Claire, additional, and Laforêt, Pascal, additional
Published: 2023
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24. 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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25. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Author: Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, and Edoardo Malfatti
Subjects: Glycogen storage disease III, Muscle glycogenosis, Metabolic myopathies, Myopathology, Autophagy, Autophagic impairment, Neurology. Diseases of the nervous system, RC346-429
Abstract: Abstract Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and muscle involvement during early adulthood. Muscle biopsy is mainly performed in patients diagnosed in adulthood, as routine diagnosis relies on blood or liver GDE analysis, followed by AGL gene sequencing. The GSDIII mouse model recapitulate the clinical phenotype in humans, and a nearly full rescue of muscle function was observed in mice treated with the dual AAV vector expressing the GDE transgene. In order to characterize GSDIII muscle morphological spectrum and identify novel disease markers and pathways, we performed a large international multicentric morphological study on 30 muscle biopsies from GSDIII patients. Autophagy flux studies were performed in human muscle biopsies and muscles from GSDIII mice. The human muscle biopsies revealed a typical and constant vacuolar myopathy, characterized by multiple and variably sized vacuoles filled with PAS-positive material. Using electron microscopy, we confirmed the presence of large non-membrane bound sarcoplasmic deposits of normally structured glycogen as well as smaller rounded sac structures lined by a continuous double membrane containing only glycogen, corresponding to autophagosomes. A consistent SQSTM1/p62 decrease and beclin-1 increase in human muscle biopsies suggested an enhanced autophagy. Consistent with this, an increase in the lipidated form of LC3, LC3II was found in patients compared to controls. A decrease in SQSTM1/p62 was also found in the GSDIII mouse model. In conclusion, we characterized the morphological phenotype in GSDIII muscle and demonstrated dysfunctional autophagy in GSDIII human samples. These findings suggest that autophagic modulation combined with gene therapy might be considered as a novel treatment for GSDIII.
Published: 2019
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26. Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study

Author: James F Howard, Saskia Bresch, Angela Genge, Channa Hewamadduma, John Hinton, Yessar Hussain, Raul Juntas-Morales, Henry J Kaminski, Angelina Maniaol, Renato Mantegazza, Masayuki Masuda, Kumaraswamy Sivakumar, Marek Śmiłowski, Kimiaki Utsugisawa, Tuan Vu, Michael D Weiss, Małgorzata Zajda, Babak Boroojerdi, Melissa Brock, Guillemette de la Borderie, Petra W Duda, Romana Lowcock, Mark Vanderkelen, M Isabel Leite, Dylan Sembinelli, Jeanne Teitelbaum, Michael Nicolle, Emilien Bernard, Juliette Svahn, Marco Spinazzi, Tanya Stojkovic, Sophie Demeret, Nicolas Weiss, Loïc Le Guennec, Sihame Messai, Christine Tranchant, Aleksandra Nadaj-Pakleza, Jean-Baptiste Chanson, Muhtadi Suliman, Leila Zaidi, Celine Tard, Peggy Lecointe, Jana Zschüntzsch, Jens Schmidt, Stefanie Glaubitz, Rachel Zeng, Matthias Scholl, Markus Kowarik, Ulf Ziemann, Markus Krumbholz, Pascal Martin, Christoph Ruschil, Jutta Dünschede, Roswitha Kemmner, Natalie Rumpel, Benjamin Berger, Andreas Totzeck, Tim Hagenacker, Benjamin Stolte, Raffaele Iorio, Amelia Evoli, Silvia Falso, Carlo Antozzi, Rita Frangiamore, Fiammetta Vanoli, Elena Rinaldi, Kazushi Deguchi, Naoya Minami, Yuriko Nagane, Yasushi Suzuki, Sayaka Ishida, Shigeaki Suzuki, Jin Nakahara, Astushi Nagaoka, Shunsuke Yoshimura, Shingo Konno, Youko Tsuya, Akiyuki Uzawa, Tomoya Kubota, Masanori Takahashi, Tatsusada Okuno, Hiroyuki Murai, Nils Erik Gilhus, Marion Boldingh, Tone Hakvåg Rønning, Urszula Chyrchel-Paszkiewicz, Klaudiusz Kumor, Tomasz Zielinski, Krzysztof Banaszkiewicz, Michał Błaż, Agata Kłósek, Mariola Świderek-Matysiak, Andrzej Szczudlik, Aneta Paśko, Lech Szczechowski, Marta Banach, Jan Ilkowski, Solange Kapetanovic Garcia, Patricia Ortiz Bagan, Ana Belén Cánovas Segura, Joana Turon Sans, Nuria Vidal Fernandez, Elena Cortes Vicente, Patricia Rodrigo Armenteros, Mohammad Ashraghi, Ana Cavey, Liam Haslam, Anna Emery, Kore Liow, Sharon Yegiaian, Alexandru Barboi, Rosa Maria Vazquez, Joshua Lennon, Robert M Pascuzzi, Cynthia Bodkin, Sandra Guingrich, Adam Comer, Mark Bromberg, Teresa Janecki, Sami Saba, Marco Tellez, Bakri Elsheikh, Miriam Freimer, Sarah Heintzman, Raghav Govindarajan, Jeffrey Guptill, Janice M Massey, Vern Juel, Natalia Gonzalez, Ali A Habib, Tahseen Mozaffar, Manisha Korb, Namita Goyal, Hannah Machemehl, Georgios Manousakis, Jeffrey Allen, Emily Harper, Constantine Farmakidis, Lilli Saavedra, Mazen Dimachkie, Mamatha Pasnoor, Salma Akhter, Said Beydoun, Courtney McIlduff, Joan Nye, Bhaskar Roy, Bailey Munro Sheldon, Richard Nowak, Benjamin Barnes, Michael Rivner, Niraja Suresh, Jessica Shaw, Brittany Harvey, Lucy Lam, Nikki Thomas, Manisha Chopra, Rebecca E Traub, Sarah Jones, Mary Wagoner, Sejla Smajic, Radwa Aly, Jonathan Katz, Henry Chen, Robert G Miller, Liberty Jenkins, Shaida Khan, Bhupendra Khatri, Lisa Sershon, Pantelis Pavlakis, Shara Holzberg, Yuebing Li, Irys B Caristo, Robert Marquardt, Debbie Hastings, Jacob Rube, Robert P Lisak, Aparna Choudhury, Katherine Ruzhansky, Amit Sachdev, Susan Shin, Joan Bratton, Mary Fetter, Naya McKinnon, Jonathan McKinnon, Laura Sissons-Ross, Amos Sahu, and B Jane Distad
Subjects: Neurology (clinical)
Published: 2023

27. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Author: Vera Bril, Artur Drużdż, Julian Grosskreutz, Ali A Habib, Renato Mantegazza, Sabrina Sacconi, Kimiaki Utsugisawa, John Vissing, Tuan Vu, Marion Boehnlein, Ali Bozorg, Maryam Gayfieva, Bernhard Greve, Franz Woltering, Henry J Kaminski, Angela Genge, Rami Massie, Maxime Berube, Lubna Daniyal, Shabber Mannan, Eduardo Ng, Ritesh Rohan Raghu Raman, Evelyn Sarpong, Monica Alcantara, Annie Dionne, Zaeem Siddiqi, Derrick Blackmore, Faraz Hussain, Genevieve Matte, Stephan Botez, Michaela Tyblova, Michala Jakubikova, Jana Junkerova, Nanna Witting, Sonja Holm-Yildiz, Mads Stemmerik, Henning Andersen, Izabella Obál, Guilhem Solé, Stéphane Mathis, Marie-Hélène Violleau, Christine Tranchant, Sihame Messai, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Arnaud Verloes, Leila Zaidi, Manuela Gambella, Michele Cavalli, Tanya Stojkovic, Sophie Demeret, Loic Le Guennec, Giorgia Querin, Nicolas Weiss, Marion Masingue, Laurent Magy, Karima Ghorab, Ia Rukhadze, Alexander Tsiskaridze, Marina Janelidze, Temur Margania, Florian Then Bergh, Eike Hänsel, Andrea Kalb, Bianca Meilick, Mandy Reuschel, Lars-Malte Teußer, Astrid Unterlauft, Clemens Goedel, Tim Hagenacker, Andreas Totzeck, Benjamin Stolte, Franz Blaes, Christine Bindler, Vasilios Tsoutsikas, Annekathrin Roediger, Christian Geis, Jens Schmidt, Jana Zschüntzsch, Margret Schwarz, Stefanie Meyer, Karsten Kummer, Stefanie Glaubitz, Rachel Zeng, Heinz Wiendl, Luisa Klotz, Anna Lammerskitten, Jan Lünemann, Péter Diószeghy, Lorenzo Maggi, Elena Rinaldi, Matteo Gastaldi, Federico Mazzacane, Pietro Businaro, Raffaele Iorio, Giovanni Antonini, Laura Fionda, Rita Rinaldi, Simone Rossi, Francesco Habetswallner, Francesco Tuccillo, Haruna Umehara, Eiko Uenaka, Masanori Takahashi, Keiko Higashi, Makoto Kinoshita, Emika Yoneda, Noriko Nakamura, Saeka Fujita, Tomoya Kubota, Masami Ono, Sana Yamamoto, Taku Hatano, Kazuki Oikoshi, Kazumasa Yokoyama, Yutaka Oji, Yuji Tomizawa, Akiyuki Uzawa, Manato Yasuda, Sachiko Akita, Yukiko Ozawa, Yosuke Onishi, Miki Takaki, Hiromi Yamada, Kanako Minemoto, Miki Sanko, Nanae Izawa, Mayumi Nakayama, Masayuki Masuda, Rune Tsuji, Nobuhiro Ido, Yumi Hyodo, Yoshihiko Okubo, Akiko Minohara, Nana Haraguchi, Makiko Naito, Seiko Yoshida, Yuri Fukushige, Akira Tsujino, Atsushi Nagaoka, Teiichiro Miyazaki, Shunsuke Yoshimura, Takuro Hirayama, Tomoaki Shima, Naoko Okamoto, Riki Matsumoto, Kenji Sekiguchi, Takehiro Ueda, Norio Chihara, Mari Kirimura, Emi Sunagawa, Ayaka Suzuki, Shigeaki Suzuki, Aozora Wada, Kei Ishizuchi, Yasushi Suzuki, Mitsuo Yata, Yuka Komatsu, Kenichi Tsukita, Genya Watanabe, Kazuki Sato, Emiko Kawasaki, Naoki Yamamoto, Hirohiko Ono, Tomoko Tsuda, Shigeki Ohashi, Yuka Fujisawa, Yumiko Yokota, Yuriko Nagane, Kameda Ayumi, Yuka Takematsu, Hiroyuki Naito, Kumiko Kuwada, Konrad Rejdak, Sebastian Szklener, Monika Kitowska, Kandyda Derkacz, Tomasz Berkowicz, Paulina Budzinska, Marek Halas, Leonid Zaslavskiy, Evgeniya Skornyakova, Sergey Kotov, Ekaterina Novikova, Olga Sidorova, Vitalii Goldobin, Tatiana Alekseeva, Patimat Isabekova, Nadezhda Malkova, Denis Korobko, Gordana Djordjevic, Aleksandar Stojanov, Stojan Peric, Dragana Lavrnic, Ivo Bozovic, Aleksa Palibrk, Carlos Casasnovas, Velina Nedkova-Hristova, Nuria Vidal Fernández, Elena Cortés Vicente, Luis Querol Gutiérrez, Maria Salvadó Figueras, Anna Canovas Segura, Raúl Juntas Morales, Daniel Sanchez Tejerina, Albert Saiz, Yolanda Blanco Morgado, Sara Llufriú Durán, María Sepúlveda Gázquez, Eugenia María Martínez Hernández, Gerardo Gutiérrez Gutiérrez, Paqui Iniesta, José Meca Lallana, Yuh-Cherng Guo, Hou-Chang Chiu, Jiann-Horng Yeh, Ya Hui Chen, Mei Fen Lee, Yi-Chung Lee, Kuan Lin Lai, Said Beydoun, Salma Akhter, Lucy Lam, Alisha Thomas, Michael Rivner, Brandy Quarles, Dale Lange, Shara Holzberg, Pantelis Pavlakis, Ashwathy Goutham, Henry Kaminski, Radwa Aly, Lisa Ashworth, Kathryn Bender, Karie Bond, Joanne Buckner, Sara Byerly, James Caress, Jessyca Clemons, Asha Farmer, Catherine Franklin, Summer Harris, Meredith Hiatt, Rachana Gandhi Mehta, Gina Miller, Lynn Smith, Rose Smith, Brian Strittmatter, Tahseen Mozaffar, Isela Hernandez, Kelsey Moulton, Chafic Karam, Pranali Ravikumar, Catherine Lomen-Hoerth, Laura Rosow, Hannah George, Viktoriya Irodenko, Carol Denny, Bart Hanson, Sara Klein, Jennifer Martinez-Thompson, Elie Naddaf, Denny Padgett, Eric Sorenson, Jane L Sultze, Delena Weis, Kourosh Rezania, Jason Thonhoff, Sheetal Shroff, Robert Pascuzzi, Angela Micheels, Cynthia Bodkin, Adam Comer, Gelasio Baras, Renee Wagner, Zabeen Mahuwala, Stephen Ryan, Kai Su, Khema Sharma, Andrew Brown, and Kore Liow
Subjects: Neurology (clinical)
Published: 2023

28. Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.

Author: Fargeot, Guillaume, Echaniz-Laguna, Andoni, Labeyrie, Céline, Svahn, Juliette, Camdessanché, Jean-Philippe, Cintas, Pascal, Chanson, Jean-Baptiste, Esselin, Florence, Piedvache, Céline, Verstuyft, Céline, Genestet, Steeve, Lagrange, Emmeline, Magy, Laurent, Péréon, Yann, Sacconi, Sabrina, Signate, Aissatou, Nadaj-Pakleza, Aleksandra, Taithe, Frédéric, Viala, Karine, and Tard, Céline
Subjects: OLDER patients, CARDIAC amyloidosis, POLYNEUROPATHIES, TRANSTHYRETIN, NERVE conduction studies, AMYLOIDOSIS
Abstract: Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effective ATTRv treatments are available. In this 5 year-long (2017–2021) nationwide prospective study, we systematically analysed the TTR gene in French patients with age >50 years with a progressive idiopathic polyneuropathy. 553 patients (70% males) with a mean age of 70 years were included. A TTR gene pathogenic variant was found in 15 patients (2.7%), including the Val30Met TTR variation in 10 cases. In comparison with patients with no TTR gene pathogenic variants (n = 538), patients with TTR pathogenic variants more often presented with orthostatic hypotension (53 vs. 21%, p =.007), significant weight loss (33 vs 11%, p =.024) and rapidly deteriorating nerve conduction studies (26 vs. 8%, p =.03). ATTRv diagnosis led to amyloid cardiomyopathy diagnosis in 11 cases, ATTRv specific treatment in all cases and identification of 15 additional ATTRv cases among relatives. In this nationwide prospective study, we found ATTRv in 2.7% of patients with age >50 years with a progressive polyneuropathy. These results are highly important for the early identification of patients in need of disease-modifying treatments. [ABSTRACT FROM AUTHOR]
Published: 2024
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29. Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available.

Author: Rouyer, Alice, Tard, Céline, Dessein, Anne‐Frédérique, Spinazzi, Marco, Bédat‐Millet, Anne‐Laure, Dimitri‐Boulos, Dalia, Nadaj‐Pakleza, Aleksandra, Chanson, Jean‐Baptiste, Nicolas, Guillaume, Douillard, Claire, and Laforêt, Pascal
Subjects: CARNITINE palmitoyltransferase, MUSCLE weakness, NEUROMUSCULAR diseases, CARDIOLOGICAL manifestations of general diseases, GENETIC disorders, GLUCOSE-6-phosphate dehydrogenase deficiency
Abstract: Introduction: Fatty‐acid oxidation disorders (FAODs) are recessive genetic diseases. Materials and methods: We report here clinical and paraclinical data from a retrospective study of 44 adults with muscular FAODs from six French reference centers for neuromuscular or metabolic diseases. Results: The study cohort consisted of 44 adult patients: 14 with carnitine palmitoyl transferase 2 deficiency (32%), nine with multiple acyl‐CoA deficiency (20%), 13 with very long‐chain acyl‐CoA dehydrogenase deficiency (30%), three with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (7%), and five with short‐chain acyl‐CoA dehydrogenase deficiency (11%). Disease onset occurred during childhood in the majority of patients (59%), with a mean age at onset of 15 years (range = 0.5–35) and a mean of 12.6 years (range = 0–58) from disease onset to diagnosis. The principal symptoms were acute muscle manifestations (rhabdomyolysis, exercise intolerance, myalgia), sometimes associated with permanent muscle weakness. Episodes of rhabdomyolysis were frequent (84%), with a mean creatinine kinase level of 68,958 U/L (range = 660–300,000). General metabolic complications were observed in 58% of patients, respiratory manifestations in 18% of cases, and cardiological manifestations in 9% of cases. Fasting acylcarnitine profile was used to orient genetic explorations in 65% of cases. After a mean follow‐up of 10 years, 33% of patients were asymptomatic and 56% continued to display symptoms after exercise. The frequency of rhabdomyolysis decreased after diagnosis in 64% of cases. Conclusion: A standardized register would complete this cohort description of muscular forms of FAODs with exhaustive data, making it possible to assess the efficacy of therapeutic protocols in real‐life conditions and during the long‐term follow‐up of patients. [ABSTRACT FROM AUTHOR]
Published: 2024
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30. In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case–control study

Author: Pijnenburg, Luc, primary, Giannini, Margherita, additional, Bouchard-Marmen, Maude, additional, Arnaud, Laurent, additional, Barsotti, Simone, additional, Bellando-Randone, Silvia, additional, Bernardi, Livio, additional, Bini, Paola, additional, Blagojevic, Jelena, additional, Codullo, Veronica, additional, Couderc, Marion, additional, De Moreuil, Claire, additional, Dernis, Emanuelle, additional, Diamanti, Luca, additional, Dubost, Jean Jacques, additional, Duval, Fanny, additional, Emmi, Giacomo, additional, Galempoix, Jean-Marc, additional, Geny, Bernard, additional, Gottenberg, Jacques-Eric, additional, Groza, Monica, additional, Guffroy, Aurelien, additional, Guichard, Isabelle, additional, Guilpain, Philippe, additional, Hervier, Baptiste, additional, Hudson, Marie, additional, Iaccarino, Luca, additional, Iannone, Florenzo, additional, Lebrun, Delphine, additional, Marchioni, Enrico, additional, Mariampillai, Kuberaka, additional, Maurier, Francois, additional, Mosca, Marta, additional, Nadaj-Pakleza, Aleksandra, additional, Nannini, Carlotta, additional, Piot, Jean-Maxime, additional, Prieto-González, Sergio, additional, Poursac, Nicolas, additional, Rouanet, Eglantine, additional, Sellam, Jérémie, additional, Selva-O'Callaghan, Albert, additional, Séverac, François, additional, Sibilia, Jean, additional, Sole, Guilhem, additional, Soulages, Antoine, additional, Terrier, Benjamin, additional, Tournadre, Anne, additional, Troyanov, Yves, additional, Vernier, Nathalie, additional, Vesperini, Veronique, additional, Viallard, Jean-François, additional, Ziane, Rahima, additional, Cavagna, Lorenzo, additional, and Meyer, Alain, additional
Published: 2023
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31. Refining Incidence and Characteristics of Inflammatory Myopathies: A Quadruple‐Source Capture–Recapture Survey Using the 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria

Author: Debrut, Léa, primary, Giannini, Margherita, additional, Klein, Delphine, additional, Spielmann, Lionel, additional, Mertz, Philippe, additional, Martin, Thierry, additional, Nadaj‐Pakleza, Aleksandra, additional, Hirschi, Sandrine, additional, Nespola, Benoit, additional, Lannes, Béatrice, additional, Terzic, Joëlle, additional, Hinschberger, Olivier, additional, Dervieux, Benjamin, additional, Lipsker, Dan, additional, Arnaud, Laurent, additional, Gottenberg, Jacques‐Eric, additional, Kleinmann, Jean François, additional, Geny, Bernard, additional, Séverac, François, additional, Velten, Michel, additional, Sibilia, Jean, additional, and Meyer, Alain, additional
Published: 2023
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32. Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

Author: Fernández-Eulate, Gorka, primary, Theuriet, Julian, additional, Record, Christopher J., additional, Querin, Giorgia, additional, Masingue, Marion, additional, Leonard-Louis, Sarah, additional, Behin, Anthony, additional, Le Forestier, Nadine, additional, Pegat, Antoine, additional, Michaud, Maud, additional, Chanson, Jean-Baptiste, additional, Nadaj-Pakleza, Aleksandra, additional, Tard, Celine, additional, Bedat-Millet, Anne-Laure, additional, Sole, Guilhem, additional, Spinazzi, Marco, additional, Salort-Campana, Emmanuelle, additional, Echaniz-Laguna, Andoni, additional, Poinsignon, Vianney, additional, Latour, Philippe, additional, Reilly, Mary M., additional, Bouhour, Francoise, additional, and Stojkovic, Tanya, additional
Published: 2023
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33. Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease

Author: Barbat du Closel, Luce, primary, Bonello‐Palot, Nathalie, additional, Péréon, Yann, additional, Echaniz‐Laguna, Andoni, additional, Camdessanche, Jean Philippe, additional, Nadaj‐Pakleza, Aleksandra, additional, Chanson, Jean‐Baptiste, additional, Frachet, Simon, additional, Magy, Laurent, additional, Cassereau, Julien, additional, Cintas, Pascal, additional, Choumert, Ariane, additional, Devic, Perrine, additional, Leonard Louis, Sarah, additional, Gravier Dumonceau, Robinson, additional, Delmont, Emilien, additional, Salort‐Campana, Emmanuelle, additional, Bouhour, Françoise, additional, Latour, Philippe, additional, Stojkovic, Tanya, additional, and Attarian, Shahram, additional
Published: 2023
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34. Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study

Author: Howard, James F, primary, Bresch, Saskia, additional, Genge, Angela, additional, Hewamadduma, Channa, additional, Hinton, John, additional, Hussain, Yessar, additional, Juntas-Morales, Raul, additional, Kaminski, Henry J, additional, Maniaol, Angelina, additional, Mantegazza, Renato, additional, Masuda, Masayuki, additional, Sivakumar, Kumaraswamy, additional, Śmiłowski, Marek, additional, Utsugisawa, Kimiaki, additional, Vu, Tuan, additional, Weiss, Michael D, additional, Zajda, Małgorzata, additional, Boroojerdi, Babak, additional, Brock, Melissa, additional, de la Borderie, Guillemette, additional, Duda, Petra W, additional, Lowcock, Romana, additional, Vanderkelen, Mark, additional, Leite, M Isabel, additional, Sembinelli, Dylan, additional, Teitelbaum, Jeanne, additional, Nicolle, Michael, additional, Bernard, Emilien, additional, Svahn, Juliette, additional, Spinazzi, Marco, additional, Stojkovic, Tanya, additional, Demeret, Sophie, additional, Weiss, Nicolas, additional, Le Guennec, Loïc, additional, Messai, Sihame, additional, Tranchant, Christine, additional, Nadaj-Pakleza, Aleksandra, additional, Chanson, Jean-Baptiste, additional, Suliman, Muhtadi, additional, Zaidi, Leila, additional, Tard, Celine, additional, Lecointe, Peggy, additional, Zschüntzsch, Jana, additional, Schmidt, Jens, additional, Glaubitz, Stefanie, additional, Zeng, Rachel, additional, Scholl, Matthias, additional, Kowarik, Markus, additional, Ziemann, Ulf, additional, Krumbholz, Markus, additional, Martin, Pascal, additional, Ruschil, Christoph, additional, Dünschede, Jutta, additional, Kemmner, Roswitha, additional, Rumpel, Natalie, additional, Berger, Benjamin, additional, Totzeck, Andreas, additional, Hagenacker, Tim, additional, Stolte, Benjamin, additional, Iorio, Raffaele, additional, Evoli, Amelia, additional, Falso, Silvia, additional, Antozzi, Carlo, additional, Frangiamore, Rita, additional, Vanoli, Fiammetta, additional, Rinaldi, Elena, additional, Deguchi, Kazushi, additional, Minami, Naoya, additional, Nagane, Yuriko, additional, Suzuki, Yasushi, additional, Ishida, Sayaka, additional, Suzuki, Shigeaki, additional, Nakahara, Jin, additional, Nagaoka, Astushi, additional, Yoshimura, Shunsuke, additional, Konno, Shingo, additional, Tsuya, Youko, additional, Uzawa, Akiyuki, additional, Kubota, Tomoya, additional, Takahashi, Masanori, additional, Okuno, Tatsusada, additional, Murai, Hiroyuki, additional, Gilhus, Nils Erik, additional, Boldingh, Marion, additional, Rønning, Tone Hakvåg, additional, Chyrchel-Paszkiewicz, Urszula, additional, Kumor, Klaudiusz, additional, Zielinski, Tomasz, additional, Banaszkiewicz, Krzysztof, additional, Błaż, Michał, additional, Kłósek, Agata, additional, Świderek-Matysiak, Mariola, additional, Szczudlik, Andrzej, additional, Paśko, Aneta, additional, Szczechowski, Lech, additional, Banach, Marta, additional, Ilkowski, Jan, additional, Kapetanovic Garcia, Solange, additional, Ortiz Bagan, Patricia, additional, Belén Cánovas Segura, Ana, additional, Turon Sans, Joana, additional, Vidal Fernandez, Nuria, additional, Cortes Vicente, Elena, additional, Rodrigo Armenteros, Patricia, additional, Ashraghi, Mohammad, additional, Cavey, Ana, additional, Haslam, Liam, additional, Emery, Anna, additional, Liow, Kore, additional, Yegiaian, Sharon, additional, Barboi, Alexandru, additional, Vazquez, Rosa Maria, additional, Lennon, Joshua, additional, Pascuzzi, Robert M, additional, Bodkin, Cynthia, additional, Guingrich, Sandra, additional, Comer, Adam, additional, Bromberg, Mark, additional, Janecki, Teresa, additional, Saba, Sami, additional, Tellez, Marco, additional, Elsheikh, Bakri, additional, Freimer, Miriam, additional, Heintzman, Sarah, additional, Govindarajan, Raghav, additional, Guptill, Jeffrey, additional, Massey, Janice M, additional, Juel, Vern, additional, Gonzalez, Natalia, additional, Habib, Ali A, additional, Mozaffar, Tahseen, additional, Korb, Manisha, additional, Goyal, Namita, additional, Machemehl, Hannah, additional, Manousakis, Georgios, additional, Allen, Jeffrey, additional, Harper, Emily, additional, Farmakidis, Constantine, additional, Saavedra, Lilli, additional, Dimachkie, Mazen, additional, Pasnoor, Mamatha, additional, Akhter, Salma, additional, Beydoun, Said, additional, McIlduff, Courtney, additional, Nye, Joan, additional, Roy, Bhaskar, additional, Munro Sheldon, Bailey, additional, Nowak, Richard, additional, Barnes, Benjamin, additional, Rivner, Michael, additional, Suresh, Niraja, additional, Shaw, Jessica, additional, Harvey, Brittany, additional, Lam, Lucy, additional, Thomas, Nikki, additional, Chopra, Manisha, additional, Traub, Rebecca E, additional, Jones, Sarah, additional, Wagoner, Mary, additional, Smajic, Sejla, additional, Aly, Radwa, additional, Katz, Jonathan, additional, Chen, Henry, additional, Miller, Robert G, additional, Jenkins, Liberty, additional, Khan, Shaida, additional, Khatri, Bhupendra, additional, Sershon, Lisa, additional, Pavlakis, Pantelis, additional, Holzberg, Shara, additional, Li, Yuebing, additional, Caristo, Irys B, additional, Marquardt, Robert, additional, Hastings, Debbie, additional, Rube, Jacob, additional, Lisak, Robert P, additional, Choudhury, Aparna, additional, Ruzhansky, Katherine, additional, Sachdev, Amit, additional, Shin, Susan, additional, Bratton, Joan, additional, Fetter, Mary, additional, McKinnon, Naya, additional, McKinnon, Jonathan, additional, Sissons-Ross, Laura, additional, Sahu, Amos, additional, and Distad, B Jane, additional
Published: 2023
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35. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Author: Bril, Vera, primary, Drużdż, Artur, additional, Grosskreutz, Julian, additional, Habib, Ali A, additional, Mantegazza, Renato, additional, Sacconi, Sabrina, additional, Utsugisawa, Kimiaki, additional, Vissing, John, additional, Vu, Tuan, additional, Boehnlein, Marion, additional, Bozorg, Ali, additional, Gayfieva, Maryam, additional, Greve, Bernhard, additional, Woltering, Franz, additional, Kaminski, Henry J, additional, Genge, Angela, additional, Massie, Rami, additional, Berube, Maxime, additional, Bril, Vera, additional, Daniyal, Lubna, additional, Mannan, Shabber, additional, Ng, Eduardo, additional, Raman, Ritesh Rohan Raghu, additional, Sarpong, Evelyn, additional, Alcantara, Monica, additional, Dionne, Annie, additional, Siddiqi, Zaeem, additional, Blackmore, Derrick, additional, Hussain, Faraz, additional, Matte, Genevieve, additional, Botez, Stephan, additional, Tyblova, Michaela, additional, Jakubikova, Michala, additional, Junkerova, Jana, additional, Witting, Nanna, additional, Holm-Yildiz, Sonja, additional, Stemmerik, Mads, additional, Andersen, Henning, additional, Obál, Izabella, additional, Solé, Guilhem, additional, Mathis, Stéphane, additional, Violleau, Marie-Hélène, additional, Tranchant, Christine, additional, Messai, Sihame, additional, Chanson, Jean-Baptiste, additional, Nadaj-Pakleza, Aleksandra, additional, Verloes, Arnaud, additional, Zaidi, Leila, additional, Gambella, Manuela, additional, Cavalli, Michele, additional, Stojkovic, Tanya, additional, Demeret, Sophie, additional, Le Guennec, Loic, additional, Querin, Giorgia, additional, Weiss, Nicolas, additional, Masingue, Marion, additional, Magy, Laurent, additional, Ghorab, Karima, additional, Rukhadze, Ia, additional, Tsiskaridze, Alexander, additional, Janelidze, Marina, additional, Margania, Temur, additional, Then Bergh, Florian, additional, Hänsel, Eike, additional, Kalb, Andrea, additional, Meilick, Bianca, additional, Reuschel, Mandy, additional, Teußer, Lars-Malte, additional, Unterlauft, Astrid, additional, Goedel, Clemens, additional, Hagenacker, Tim, additional, Totzeck, Andreas, additional, Stolte, Benjamin, additional, Blaes, Franz, additional, Bindler, Christine, additional, Tsoutsikas, Vasilios, additional, Roediger, Annekathrin, additional, Geis, Christian, additional, Schmidt, Jens, additional, Zschüntzsch, Jana, additional, Schwarz, Margret, additional, Meyer, Stefanie, additional, Kummer, Karsten, additional, Glaubitz, Stefanie, additional, Zeng, Rachel, additional, Wiendl, Heinz, additional, Klotz, Luisa, additional, Lammerskitten, Anna, additional, Lünemann, Jan, additional, Diószeghy, Péter, additional, Maggi, Lorenzo, additional, Rinaldi, Elena, additional, Gastaldi, Matteo, additional, Mazzacane, Federico, additional, Businaro, Pietro, additional, Iorio, Raffaele, additional, Antonini, Giovanni, additional, Fionda, Laura, additional, Rinaldi, Rita, additional, Rossi, Simone, additional, Habetswallner, Francesco, additional, Tuccillo, Francesco, additional, Umehara, Haruna, additional, Uenaka, Eiko, additional, Takahashi, Masanori, additional, Higashi, Keiko, additional, Kinoshita, Makoto, additional, Yoneda, Emika, additional, Nakamura, Noriko, additional, Fujita, Saeka, additional, Kubota, Tomoya, additional, Ono, Masami, additional, Yamamoto, Sana, additional, Hatano, Taku, additional, Oikoshi, Kazuki, additional, Yokoyama, Kazumasa, additional, Oji, Yutaka, additional, Tomizawa, Yuji, additional, Uzawa, Akiyuki, additional, Yasuda, Manato, additional, Akita, Sachiko, additional, Ozawa, Yukiko, additional, Onishi, Yosuke, additional, Takaki, Miki, additional, Yamada, Hiromi, additional, Minemoto, Kanako, additional, Sanko, Miki, additional, Izawa, Nanae, additional, Nakayama, Mayumi, additional, Masuda, Masayuki, additional, Tsuji, Rune, additional, Ido, Nobuhiro, additional, Hyodo, Yumi, additional, Okubo, Yoshihiko, additional, Minohara, Akiko, additional, Haraguchi, Nana, additional, Naito, Makiko, additional, Yoshida, Seiko, additional, Fukushige, Yuri, additional, Tsujino, Akira, additional, Nagaoka, Atsushi, additional, Miyazaki, Teiichiro, additional, Yoshimura, Shunsuke, additional, Hirayama, Takuro, additional, Shima, Tomoaki, additional, Okamoto, Naoko, additional, Matsumoto, Riki, additional, Sekiguchi, Kenji, additional, Ueda, Takehiro, additional, Chihara, Norio, additional, Kirimura, Mari, additional, Sunagawa, Emi, additional, Suzuki, Ayaka, additional, Suzuki, Shigeaki, additional, Wada, Aozora, additional, Ishizuchi, Kei, additional, Suzuki, Yasushi, additional, Yata, Mitsuo, additional, Komatsu, Yuka, additional, Tsukita, Kenichi, additional, Watanabe, Genya, additional, Sato, Kazuki, additional, Kawasaki, Emiko, additional, Yamamoto, Naoki, additional, Ono, Hirohiko, additional, Tsuda, Tomoko, additional, Ohashi, Shigeki, additional, Fujisawa, Yuka, additional, Yokota, Yumiko, additional, Nagane, Yuriko, additional, Ayumi, Kameda, additional, Takematsu, Yuka, additional, Naito, Hiroyuki, additional, Kuwada, Kumiko, additional, Rejdak, Konrad, additional, Szklener, Sebastian, additional, Kitowska, Monika, additional, Derkacz, Kandyda, additional, Berkowicz, Tomasz, additional, Budzinska, Paulina, additional, Halas, Marek, additional, Zaslavskiy, Leonid, additional, Skornyakova, Evgeniya, additional, Kotov, Sergey, additional, Novikova, Ekaterina, additional, Sidorova, Olga, additional, Goldobin, Vitalii, additional, Alekseeva, Tatiana, additional, Isabekova, Patimat, additional, Malkova, Nadezhda, additional, Korobko, Denis, additional, Djordjevic, Gordana, additional, Stojanov, Aleksandar, additional, Peric, Stojan, additional, Lavrnic, Dragana, additional, Bozovic, Ivo, additional, Palibrk, Aleksa, additional, Casasnovas, Carlos, additional, Nedkova-Hristova, Velina, additional, Vidal Fernández, Nuria, additional, Cortés Vicente, Elena, additional, Querol Gutiérrez, Luis, additional, Salvadó Figueras, Maria, additional, Canovas Segura, Anna, additional, Juntas Morales, Raúl, additional, Sanchez Tejerina, Daniel, additional, Saiz, Albert, additional, Blanco Morgado, Yolanda, additional, Llufriú Durán, Sara, additional, Sepúlveda Gázquez, María, additional, Martínez Hernández, Eugenia María, additional, Gutiérrez Gutiérrez, Gerardo, additional, Iniesta, Paqui, additional, Meca Lallana, José, additional, Guo, Yuh-Cherng, additional, Chiu, Hou-Chang, additional, Yeh, Jiann-Horng, additional, Chen, Ya Hui, additional, Lee, Mei Fen, additional, Lee, Yi-Chung, additional, Lai, Kuan Lin, additional, Beydoun, Said, additional, Akhter, Salma, additional, Lam, Lucy, additional, Thomas, Alisha, additional, Rivner, Michael, additional, Quarles, Brandy, additional, Lange, Dale, additional, Holzberg, Shara, additional, Pavlakis, Pantelis, additional, Goutham, Ashwathy, additional, Kaminski, Henry, additional, Aly, Radwa, additional, Ashworth, Lisa, additional, Bender, Kathryn, additional, Bond, Karie, additional, Buckner, Joanne, additional, Byerly, Sara, additional, Caress, James, additional, Clemons, Jessyca, additional, Farmer, Asha, additional, Franklin, Catherine, additional, Harris, Summer, additional, Hiatt, Meredith, additional, Gandhi Mehta, Rachana, additional, Miller, Gina, additional, Smith, Lynn, additional, Smith, Rose, additional, Strittmatter, Brian, additional, Mozaffar, Tahseen, additional, Hernandez, Isela, additional, Moulton, Kelsey, additional, Karam, Chafic, additional, Ravikumar, Pranali, additional, Lomen-Hoerth, Catherine, additional, Rosow, Laura, additional, George, Hannah, additional, Irodenko, Viktoriya, additional, Denny, Carol, additional, Hanson, Bart, additional, Klein, Sara, additional, Martinez-Thompson, Jennifer, additional, Naddaf, Elie, additional, Padgett, Denny, additional, Sorenson, Eric, additional, L Sultze, Jane, additional, Weis, Delena, additional, Rezania, Kourosh, additional, Thonhoff, Jason, additional, Shroff, Sheetal, additional, Pascuzzi, Robert, additional, Micheels, Angela, additional, Bodkin, Cynthia, additional, Comer, Adam, additional, Baras, Gelasio, additional, Wagner, Renee, additional, Mahuwala, Zabeen, additional, Ryan, Stephen, additional, Su, Kai, additional, Sharma, Khema, additional, Brown, Andrew, additional, and Liow, Kore, additional
Published: 2023
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36. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Author: Laforêt, Pascal, Inoue, Michio, Goillot, Evelyne, Lefeuvre, Claire, Cagin, Umut, Streichenberger, Nathalie, Leonard-Louis, Sarah, Brochier, Guy, Madelaine, Angeline, Labasse, Clemence, Hedberg-Oldfors, Carola, Krag, Thomas, Jauze, Louisa, Fabregue, Julien, Labrune, Philippe, Milisenda, Jose, Nadaj-Pakleza, Aleksandra, Sacconi, Sabrina, Mingozzi, Federico, Ronzitti, Giuseppe, Petit, François, Schoser, Benedikt, Oldfors, Anders, Vissing, John, Romero, Norma B., Nishino, Ichizo, and Malfatti, Edoardo
Published: 2019
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37. Hypertrophie musculaire : signe de bonne santé ou de maladie ?

Author: Aleksandra Nadaj-Pakleza
Abstract: In order to explain muscle hypertrophy in a patient complaining of muscular symptoms one must take into account the patient’s daily professional or leisure physical activity. If muscle hypertrophy cannot be attributed to active lifestyle, an underlying neuromuscular pathology should be suspected. The check-up includes a meticulous neurological examination (looking for myotonia, rippling, myoclonus, etc.), a CK level dosage, an electromyography (for myotonic discharges), and, if necessary, it should be completed by muscle biopsy and molecular examinations. Several diagnostic hypotheses should be considered. Most are related to a genetic defect leading to dysfunction of the excitation-contraction coupling in the muscle. The diagnosis of a myotonic syndrome is the most common but caveolinopathy 3, RYR1-related myopathy or Brody’s disease are also possible.
Published: 2022

38. Refining inflammatory myopathies incidence and characteristics: a quadruple source capture‐recapture survey using 2017 <scp>ACR</scp> / <scp>EULAR</scp> criteria

Author: Léa Debrut, Margherita Giannini, Delphine Klein, Lionel Spielmann, Philippe Mertz, Thierry Martin, Aleksandra Nadaj‐Pakleza, Sandrine Hirschi, Benoit Nespola, Béatrice Lannes, Joëlle Terzic, Olivier Hinschberger, Benjamin Dervieux, Dan Lipsker, Laurent Arnaud, Jacques‐Eric Gottenberg, Jean François Kleinmann, Bernard Geny, François Séverac, Michel Velten, Jean Sibilia, and Alain Meyer
Subjects: Rheumatology, Immunology, Immunology and Allergy
Published: 2023

39. <scp> SORD </scp> ‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages

Author: Nicolas Pons, Gorka Fernández‐Eulate, Antoine Pegat, Marie Théaudin, Régis Guieu, Paolo Ripellino, Manon Devedjian, Patrick Mace, Marion Masingue, Sarah Léonard‐Louis, Philipe Petiot, Pauline Roche, Emilien Bernard, Françoise Bouhour, Jean‐Marc Good, Annie Verschueren, Aude‐Marie Grapperon, Emmanuelle Salort, Anaïs Grosset, Jean‐Baptiste Chanson, Aleksandra Nadaj‐Pakleza, Anne‐Laure Bédat‐Millet, Ariane Choumert, Anne Barnier, Ghassen Hamdi, Gaëtan Lesca, Fabienne Prieur, Arnaud Bruneel, Philippe Latour, Tanya Stojkovic, Shahram Attarian, and Nathalie Bonello‐Palot
Subjects: Neurology, Neurology (clinical)
Published: 2023

40. Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Author: Lukas J. Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J. Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A. Petersen, Thomas Tousseyn, Dietmar R. Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y. Van den Bergh, Jörg B. Schulz, Joachim Weis, and Kristl G. Claeys
Subjects: SLONM, Muscle biopsy, HIV-associated nemaline myopathy, HIV-NM, Monoclonal gammopathy, MGUS, Medicine
Abstract: Abstract Background Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking. Methods We studied the clinico-pathological features, treatment and outcome in a large cohort of 76 patients with SLONM, comprising 10 new patients and 66 cases derived from a literature meta-analysis (PubMed, 1966–2016), and compared these with 15 reported HIV-associated nemaline myopathy (HIV-NM) cases. In 6 SLONM patients, we performed a targeted next-generation sequencing (NGS) panel comprising 283 myopathy genes. Results SLONM patients had a mean age at onset of 52 years. The predominant phenotype consisted of weakness and atrophy of proximal upper limbs in 84%, of proximal lower limbs in 80% and both in 67%. Other common symptoms included axial weakness in 68%, as well as dyspnea in 55% and dysphagia in 47% of the patients. In 53% a monoclonal gammopathy of unknown significance (MGUS) was detected in serum. The mean percentage of muscle fibers containing rods was 28% (range 1–63%). In 2 cases ultrastructural analysis was necessary to detect the rods. The most successful treatment in SLONM patients (all with MGUS) was autologous peripheral blood stem cell therapy. A targeted NGS gene panel in 6 SLONM patients (without MGUS) did not reveal causative pathogenic variants. In a comparison of SLONM patients with and without MGUS, the former comprised significantly more males, had more rapid disease progression, and more vacuolar changes in muscle fibers. Interestingly, the muscle biopsy of 2 SLONM patients with MGUS revealed intranuclear rods, whereas this feature was not seen in any of the biopsies from patients without paraproteinemia. Compared to the overall SLONM cohort, significantly more HIV-NM patients were male, with a lower age at onset (mean 34 years). In addition, immunosuppression was more frequently applied with more favorable outcome, and muscle biopsies revealed a significantly higher degree of inflammation and necrosis in this cohort. Similar to SLONM, MGUS was present in half of the HIV-NM patients. Conclusions SLONM presents a challenging, but important differential diagnosis to other neuromuscular diseases of adult onset. Investigations for MGUS and HIV should be performed, as they require distinct but often effective therapeutic approaches. Even though SLONM and HIV-NM show some differences, there exists a large clinico-pathological overlap between the 2 entities.
Published: 2017
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41. 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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42. Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III

Author: Decostre, Valérie, Laforêt, Pascal, Nadaj-Pakleza, Aleksandra, De Antonio, Marie, Leveugle, Sylvain, Ollivier, Gwenn, Canal, Aurélie, Kachetel, Kahina, Petit, François, Eymard, Bruno, Behin, Anthony, Wahbi, Karim, Labrune, Philippe, and Hogrel, Jean-Yves
Published: 2016
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43. Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

Author: Tasca, Giorgio, D'Amico, Adele, Monforte, Mauro, Nadaj-Pakleza, Aleksandra, Vialle, Marc, Fattori, Fabiana, Vissing, John, Ricci, Enzo, and Bertini, Enrico
Published: 2015
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44. Intérêts et limites de l’électroneuromyographie chez les enfants : étude de 137 cas

Author: Yvan de Feraudy, Aleksandra Nadaj-Pakleza, Laugel Vincent, and Jean-Baptiste Chanson
Subjects: Neurology, Neurology (clinical)
Published: 2023

45. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Author: Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K., Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassan, Savvatis, Kostantinos, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Marijon, Eloi, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Sole, Guilhem, Labombarda, Fabien, Richard, Pascale, Metay, Corinne, Quijano-Roy, Susana, Dabaj, Ivana, Klug, Didier, Vantyghem, Marie-Christine, Chevalier, Philippe, Ambrosi, Pierre, Salort, Emmanuelle, Sadoul, Nicolas, Waintraub, Xavier, Chikhaoui, Khadija, Mabo, Philippe, Combes, Nicolas, Maury, Philippe, Sellal, Jean-Marc, Tedrow, Usha B., Kalman, Jonathan M., Vohra, Jitendra, Androulakis, Alexander F.A., Zeppenfeld, Katja, Thompson, Tina, Barnerias, Christine, Bécane, Henri-Marc, Bieth, Eric, Boccara, Franck, Bonnet, Damien, Bouhour, Françoise, Boulé, Stéphane, Brehin, Anne-Claire, Chapon, Françoise, Cintas, Pascal, Cuisset, Jean-Marie, Davy, Jean-Marc, De Sandre-Giovannoli, Annachiara, Demurger, Florence, Desguerre, Isabelle, Dieterich, Klaus, Durigneux, Julien, Echaniz-Laguna, Andoni, Eschalier, Romain, Ferreiro, Ana, Ferrer, Xavier, Francannet, Christine, Fradin, Mélanie, Gaborit, Bénédicte, Gay, Arnaud, Hagège, Albert, Isapof, Arnaud, Jeru, Isabelle, Juntas Morales, Raul, Lagrue, Emmanuelle, Lamblin, Nicolas, Lascols, Olivier, Laugel, Vincent, Lazarus, Arnaud, Leturcq, France, Levy, Nicolas, Magot, Armelle, Manel, Véronique, Martins, Raphaël, Mayer, Michèle, Mercier, Sandra, Meune, Christophe, Michaud, Maud, Minot-Myhié, Marie-Christine, Muchir, Antoine, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Petiot, Philippe, Petit, Florence, Praline, Julien, Rollin, Anne, Sabouraud, Pascal, Sarret, Catherine, Schaeffer, Stéphane, Taithe, Frederic, Tard, Céline, Tiffreau, Vincent, Toutain, Annick, Vatier, Camille, Walther-Louvier, Ulrike, Eymard, Bruno, Charron, Philippe, Vigouroux, Corinne, Bonne, Gisèle, Kumar, Saurabh, Elliott, Perry, and Duboc, Denis
Published: 2019
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46. Characteristics of Patients With Late-Onset Pompe Disease in France.

Author: Lefeuvre, Claire, De Antonio, Marie, Bouhour, Francoise, Tard, Celine, Salort-Campana, Emmanuelle, Lagrange, Emmeline, Behin, Anthony, Sole, Guilhem, Noury, Jean-Baptiste, Sacconi, Sabrina, Magot, Armelle, Nadaj-Pakleza, Aleksandra, Lacour, Arnaud, Beltran, Stephane, Spinazzi, Marco, Cintas, Pascal, Renard, Dimitri, Michaud, Maud, Bedat-Millet, Anne-Laure, and Prigent, Helene
Published: 2023
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47. Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Author: Bauché, Stéphanie, Vellieux, Geoffroy, Sternberg, Damien, Fontenille, Marie-Joséphine, De Bruyckere, Elodie, Davoine, Claire-Sophie, Brochier, Guy, Messéant, Julien, Wolf, Lucie, Fardeau, Michel, Lacène, Emmanuelle, Romero, Norma, Koenig, Jeanine, Fournier, Emmanuel, Hantaï, Daniel, Streichenberger, Nathalie, Manel, Veronique, Lacour, Arnaud, Nadaj-Pakleza, Aleksandra, Sukno, Sylvie, Bouhour, Françoise, Laforêt, Pascal, Fontaine, Bertrand, Strochlic, Laure, Eymard, Bruno, Chevessier, Frédéric, Stojkovic, Tanya, and Nicole, Sophie
Published: 2017
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48. A rise in cases of nitrous oxide abuse: neurological complications and biological findings

Author: Cécile Reschwein, Laurent Kremer, Pauline Kalaaji, Stanislas Demuth, Ivana Schroder, Lucas Gauer, Thomas Bogdan, Jérôme De Seze, Paul Voulleminot, Maximilian Einsiedler, Aleksandra Nadaj-Pakleza, and Kévin Bigaut
Subjects: Vitamin, Pediatrics, medicine.medical_specialty, Neurology, Homocysteine, Vitamin B-12, Methylmalonic acid, Toxicology, chemistry.chemical_compound, medicine, Humans, Pandemics, Original Communication, Nitrous oxide, business.industry, SARS-CoV-2, Incidence (epidemiology), COVID-19, Vitamin B 12 Deficiency, medicine.disease, Substance abuse, Vitamin B 12, chemistry, Communicable Disease Control, Subacute Combined Degeneration, Neurology (clinical), business, Substance-related disorders
Abstract: Background The recent lockdown due to the COVID-19 pandemic has been linked to a higher incidence of psychiatric manifestations and substance abuse. The recreative use of nitrous oxide is more and more widespread and neurological complications are frequent. Methods We report clinical characteristics and biological findings of five consecutive patients presenting to our tertiary care center between April 2020 and February 2021 with various neurological symptoms occurring after recent nitrous oxide abuse. Results Our patients presented with subacute combined degeneration of the spinal cord (4/5 patients) or with acute inflammatory demyelinating polyneuropathy (1/5 patients). No patient had reduced vitamin B-12 titer, but all had elevated blood levels of homocysteine and methylmalonic acid. This reflects the functional deficit in vitamin B-12 that can be linked to nitrous oxide consumption. After vitamin B-12 supplementation, clinical signs regressed at least partially in all 5 patients. Conclusion We report an elevated incidence of neurological complications of nitrous oxide abuse occurring during the recent COVID-19 lockdown. Nitrous oxide abuse should be tracked down in patients presenting with compatible neurological symptoms and elevated homocysteinemia. Vitamin B-12 should be supplemented as soon as the diagnosis is made.
Published: 2021

49. Genotype-phenotype correlations in valosin-containing protein disease

Author: Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío Nur, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George K, Warman-Chardon, Jodi, Claeys, Kristl G, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N, Nair, Sruthi S, Manousakis, Georgios, Kushlaf, Hani A, Harms, Matthew B, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria Elena, Lamont, Phillipa J, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi, VCP International Study Group, Schiava, Marianela, Caballero-Ávila, Marta, Nishino, Ichizo, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Pegoraro, Elena, Shin, Jin-Hong, Domínguez-Gonzalez, Cristina, Claeys, Kristl G., Alfano, Lindsay N., Nair, Sruthi S., Cetin, Hakan, Luo, Sushan, Weihl, Conrad, Díaz-Manera, Jordi, VCP International Study Group, Neurology, and ANS - Neuroinfection & -inflammation
Subjects: Psychiatry and Mental health, MYOPATHY, GENETICS, FRONTOTEMPORAL DEMENTIA, INCL BODY MYOSITIS, MUSCLE DISEASE, Surgery, Human medicine, Neurology (clinical)
Abstract: [ntroduction] Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations., [Methods] Descriptive retrospective study collecting clinical and genetic data from patients with confirmed mutations in the VCP gene in 52 centres from 24 countries., [Results] We included 234 patients (70% males, mean age 55.54 + 9.6 years [y]). Mean age at symptom onset 45.6 + 9.3 y, mean diagnostic delay 7.74 + 6 y, and mean time of disease progression 11.3 + 6.9 y. Disease onset was symmetric lower limb weakness in 50% of the patients progressing towards generalized muscle weakness affecting proximal and distal lower and upper limb muscles. Other clinical features included: respiratory symptoms in 40.3%, PBD in 26.7%, dysautonomia in 21.4%, upper and lower motor neuron signs in 13.3% and 21.85%, and FTD in 13.9% of the patient. Fifty-eight genetic variants were identified being the most frequent the c.464G>A, p.Arg155His in 28% of the patients and the c.463C>T, p.Arg155Cys in 11.1%. Twenty new mutations were identified. The c.463C>T, p.Arg155Cys variant had the earliest age of onset (37.8 + 7.6 y) among the 4 most frequent variants and a higher frequency of axial weakness, distal upper limb weakness, scapula winging and mix cognitive. 19.1% of the patients were full time wheelchair users and 4.0% (9/225) were bedridden at a median of 8.5 y and 15 y from onset. Thirty–seven patients died at a mean age of 63.9 + 8.1 and at a mean of 15.8 + 6.6 y from disease onset, 7 due to respiratory insufficiency and 5 due to rapidly progressive dementia. The presence of a FVC< 50% was associated with being full time wheelchair user/ bedridden and the presence of a FVC, [Conclusion] The heterogeneous clinical features of VCP could resemble other neuromuscular conditions. The c.463C>T p.Arg155Cys variant seems to have an earlier age of onset and more severe phenotype. Presence of FVC
Published: 2022

50. Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

Author: Jacquier, Arnaud, primary, Ribault, Shams, additional, Mendes, Michel, additional, Lacoste, Nicolas, additional, Risson, Valérie, additional, Carras, Julien, additional, Latour, Philippe, additional, Nadaj‐Pakleza, Aleksandra, additional, Stojkovic, Tanya, additional, and Schaeffer, Laurent, additional
Published: 2022
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