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1. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W Day, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Aurore Daron, Stéphanie Delstanche, Romain Bruninx, Fabian Dal Farra, Olivier Schneider, Irina Balikova, Patricia Delbeke, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Ingele Casteels, Liesbeth De Waele, Catherine Cassiman, Lies Prové, David Kinoo, Lisa Vancampenhout, Marleen Van Den Hauwe, Annelies Van Impe, Alexandra Prufer de Queiroz Campos Araujo, Aline Chacon Pereira, Flávia Nardes, Lorena Haefeli, Julia Rossetto, Marcos Ferreira Rebel, Jaqueline Almeida Pereira, Craig Campbell, Sapna Sharan, Wendy McDonald, Cheryl Scholtes, Jean Mah, Maria Sframeli, Angela Chiu, Jane Hagel, Raquel Beneish, Gaela Cariou-Palmer, Connie Pham, Daniela Toffoli, Stephanie Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huan, Chen Qian, Li Shen, Ying Xiao, Zhenxuan Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Hui Dong, Ying Liu, Tian Sang, Cuijie Wei, Jing Wen, Yiwen Cao, Xingyao Ly, Jingjing Zhao, Wenzhu Li, Lun Qin, Nina Barisic, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Teresa Gidaro, Andreea Seferian, Silvana De Lucia, Emmanuel Barreau, Nabila Mnafek, Marta Milkova Momtchilova, Helene Peche, Carole Valherie, Allison Grange, Charlotte Lilien, Darko Milascevic, Shotaro Tachibana, Claudia Ravelli, Ruxandra Cardas, Jessica Taytard, Guillaume Aubertin, Laure Vanden Brande, Jean-Baptiste Davion, Stephanie Coopman, Ikram Bouacha, Philippe Debruyne, Sabine Defoort, Gilles Derlyn, Florian Leroy, Loïc Danjoux, Julie Guilbaud, Isabelle Desguerre, Christine Barnérias, Michaela Semeraro, Dominique Bremond-Gignac, Lenaic Bruere, Maxence Rateaux, Élodie Deladrière, Virginie Germa, Yann Pereon, Sandra Mercie, Fanny Billaud, Lucie Le Goff, Guy Letellier, Aurélie Portefaix, Camille De-Montferrand, Laure Le-Goff, Stephanie Fontaine, Manel Saidi, Nabil Bouzid, Aurélie Barriere, Marie Tinat, Michelle Dreesbach, Wolf Lagréze, Bettina Michaelis, Fanni Molnar, Dorina Seger, Sibylle Vogt, Enrico Bertini, Adele D'Amico, Sergio Petroni, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Enrico Priolo, Giuseppe Rao, Simone Morando, Paola Tacchetti, Ambra Zuffi, Giacomo Pietro Comi, Roberta Brusa, Stefania Corti, Velardo Daniele, Alessandra Govoni, Francesca Magri, Valeria Minorini, Silvia Gabriella Osnaghi, Francesca Abbati, Federica Fassini, Michaela Foa, Amaqlia Lopopolo, Megi Meneri, Francesca Zoppas, Valeria Parente, Riccardo Masson, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Riccardo Zanin, Laura Antonaci, Roberto de Sanctis, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Gugliemo D'Amico, Lorenzo Orazi, Giorgia Coratti, Kazuhiro Haginoya, Atsuko Kato, Yuko Morishita, Ryutaro Kira, Kiyomu Akiyama, Miwako Goto, Yujiro Mori, Misato Okamoto, Saki Tsutsui, Yuta Takatsuji, Aya Tanaka, Hirofumi Komaki, Miina Omori, Ippei Suzuki, Mizuki Takeuchi, Daisuke Todoroki, Seji Watanabe, Tomoko Matsubayashi, Emi Inakazu, Hiroe Nagura, Akira Suzuki, Manami Usui, Nobutsune Ishikawa, Yousuke Harada, Kenishi Fudeyasu, Kazuhiko Hirata, Kana Michiue, Kazuyuki Ueda, Junko Fujitani, Reiko Arakawa, Kozue Takano, Shigeko Yashiro, Maiko Seki, Nozomi Sano, Koji Fukuyama, Yuki Matsumoto, Hirofumi Miyazaki, Minoru Shibata, Kyoko Kobayashi, Yukie Nakamura, Yasuhiro Takeshima, Moe Kuma, Anna Fraczek, Maria Jedrzejowska, Anna Lusakowska, Agnieszka Czeszyk-Piotrowicz, Wojciech Hautz, Klaudia Rakusiewicz, Malgorzata Burlewicz, Zuzanna Gierlak-Wojcicka, Malwina Kepa, Adam Sikorski, Marcin Sobieraj, Maria Mazurkiewicz-Beldzinska, Anna Lemska, Sandra Modrzejewska, Mateusz Koberda, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Barbara Steinborn, Magdalena Dalz, Julia Grabowska, Wojciech Hajduk, Justyna Janasiewicz-Karachitos, Monika Klimas, Marcin Stopa, Ewa Gajewska, Beata Pusz, Dmitry Vlodavets, Evgenia Melnik, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Vedrana Milic Rasic, Vesna Brankovic, Ana Kosac, Olivera Djokic, Vesna Jakšic, Ana Pepic, Jelena Martinovic, Francina Munell Casadesus, Eduardo Tizzano, Nieves Martín Begué, Charlotte Wolley Dod, Olaia Subira, Bernat Planas Pascual, Esther Toro Tamargo, Marcos Madruga Garrido, José David Medina Romero, Marta Peña Salinas, Andrés Nascimento Osorio, Ana Díaz Cortés, Enrique Jiménez Gañan, Simone Dowon Suh, Julita Medina Cantillo, Obdulia Moya, Nuria Padros, Sandra Roca Urraca, Hugo Gonzalez Valdivia, Samuel Pascual Pascual, Sofía de Manuel, Susana Noval Martin, Paul Burnham, Sandra Espinosa, Mercedes Martinez Moreno, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugru, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Neslihan Bilgin, Seher Sari, Claudia Chiriboga, John J. Lee, Donnielle Rome-Martin, John W. Day, Shannon Beres, Tina Duong, Richard Gee, Sally Dunaway Young, Sabine Fuerst-Recktenwald, Anne Marquet, Nicoletta Muelhardt, and Dylan Trundell

Subjects
Adult, Risdiplam, spinal muscular atrophy, Adolescent, Spinal Muscular Atrophies of Childhood, Settore MED/26 - NEUROLOGIA, Young Adult, Pyrimidines, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Child, Preschool, Humans, Neurology (clinical), Child, Preschool, Azo Compounds, Aged
Abstract

BACKGROUND: Risdiplam is an oral small molecule approved for the treatment of patients with spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal muscular atrophy granted on the basis of unpublished data. The drug modifies pre-mRNA splicing of the SMN2 gene to increase production of functional SMN. We aimed to investigate the safety and efficacy of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. METHODS: In this phase 3, randomised, double-blind, placebo-controlled study, patients aged 2-25 years with confirmed 5q autosomal recessive type 2 or type 3 spinal muscular atrophy were recruited from 42 hospitals in 14 countries across Europe, North America, South America, and Asia. Participants were eligible if they were non-ambulant, could sit independently, and had a score of at least 2 in entry item A of the Revised Upper Limb Module. Patients were stratified by age and randomly assigned (2:1) to receive either daily oral risdiplam, at a dose of 5·00 mg (for individuals weighing =20 kg) or 0·25 mg/kg (for individuals weighing

Published
2022
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3. 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials

Author

Federica Montagnese, Katy de Valle, Richard J.L.F. Lemmers, Karlien Mul, Julie Dumonceaux, Nicol Voermans, Giorgio Tasca, Maria Gomez-Rodulfo, Sabrina Sacconi, Richard Lemmers, Pilar Camano, Emiliano Giardina, Nienke van der Stoep, Sarah Burton-Jones, Frederique Magdinier, Valerie Race, Sheila Hawkins, Alexandre Mejat, Piraye Oflazer, Lorenzo Guizzaro, Jamshid Arjomand, Yann Pereon, Giulia Ricci, Enrico Bugiardini, and Alexandra Belayew

Subjects
All institutes and research themes of the Radboud University Medical Center, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetics (clinical)
Abstract

Item does not contain fulltext

Published
2023

4. Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study

Author

Claire Peillet, David Adams, Shahram Attarian, Françoise Bouhour, Cécile Cauquil, Julien Cassereau, Jean‐Baptiste Chanson, Pascal Cintas, Alain Creange, Emilien Delmont, Guillaume Fargeot, Steeve Genestet, Antoine Gueguen, Anne Laure Kaminsky, Thierry Kuntzer, Céline Labeyrie, Maud Michaud, Yann Pereon, Angela Puma, Karine Viala, Pascale Chretien, Clovis Adam, and Andoni Echaniz‐Laguna

Subjects
Male, Neurology, Immunoglobulin M, Gangliosides, Humans, Immunoglobulins, Intravenous, Peripheral Nervous System Diseases, Female, Neurology (clinical), Retrospective Studies
Abstract

In this retrospective study involving 14 university hospitals from France and Switzerland, the aim was to define the clinicopathological features of chronic neuropathies with anti-disialosyl ganglioside immunoglobulin M (IgM) antibodies (CNDA).Fifty-five patients with a polyneuropathy evolving for more than 2 months and with at least one anti-disialosyl ganglioside IgM antibody, that is, anti-GD1b, -GT1b, -GQ1b, -GT1a, -GD2 and -GD3, were identified. Seventy-eight percent of patients were male, mean age at disease onset was 55 years (30-76) and disease onset was progressive (82%) or acute (18%). Patients presented with limb sensory symptoms (94% of cases), sensory ataxia (85%), oculomotor weakness (36%), limb motor symptoms (31%) and bulbar muscle weakness (18%). Sixty-five percent of patients had a demyelinating polyradiculoneuropathy electrodiagnostic profile and 24% a sensory neuronopathy profile. Anti-GD1b antibodies were found in 78% of cases, whilst other anti-disialosyl antibodies were each observed in less than 51% of patients. Other features included nerve biopsy demyelination (100% of cases), increased cerebrospinal fluid protein content (75%), IgM paraprotein (50%) and malignant hemopathy (8%). Eighty-six percent of CNDA patients were intravenous immunoglobulins-responsive, and rituximab was successfully used as second-line treatment in 50% of cases. Fifteen percent of patients had mild symptoms and were not treated. CNDA course was progressive (55%) or relapsing (45%), and 93% of patients still walked after a mean disease duration of 11 years.Chronic neuropathies with anti-disialosyl ganglioside IgM antibodies have a recognizable phenotype, are mostly intravenous immunoglobulins-responsive and present with a good outcome in a majority of cases.

Published
2022

5. [Small fiber neuropathy diagnosis]

Author

Marie, Théaudin, François, Ochsner, Clovis, Adam, Andoni, Echaniz-Laguna, Laurent, Magy, Damien, Fayolle, Alex, Vicino, Annemarie, Hübers, and Yann, Pereon

Subjects
Nerve Fibers, Biopsy, Small Fiber Neuropathy, Humans, Neuralgia, Skin
Abstract

Small fiber neuropathies affect small, poorly myelinated sensory Aδ and amyelinated C autonomic fibers. Neuropathic pain is often the main symptom. Positive diagnosis is based on the presence of deficient thermo-algesic sensory signs and/or dysautonomic signs with normal neurography. Several tests help to confirm the involvement of small fibers, ranging from simple tests such as the sympathetic skin response to skin biopsy, which measures the density of intraepidermal nerve fibers. The availability of these different tests varies greatly from one center to another. There are multiple etiologies, from rare genetic causes to the more frequent acquired dysimmune or metabolic causes. However, in more than half of the cases, no etiology is identified.Les neuropathies des petites fibres touchent les petites fibres peu myélinisées sensitives Aδ et amyéliniques C autonomes. La douleur neuropathique est souvent le symptôme principal. Le diagnostic positif repose sur la présence de signes sensitifs thermo-algiques déficitaires et/ou de signes dysautonomiques avec des neurographies normales. Plusieurs examens aident à confirmer l’atteinte des petites fibres, allant de tests simples comme la réponse cutanée sympathique à la biopsie de peau qui mesure la densité des fibres nerveuses intra-épidermiques. L’accessibilité de ces différents examens est très variable d’un centre à l’autre. Les étiologies sont variées, des causes génétiques rares aux causes acquises dysimmunes ou métaboliques plus fréquentes. Toutefois, dans plus de la moitié des cas, aucune étiologie n’est retrouvée.

Published
2022

6. Albert Pitres: Charcot's Brilliant Student

Author

Emmanuel Drouin, Yann Pereon, Marta Pasquini, and Patrick Hautecoeur

Subjects
Male, Neurology, Physicians, Neurosciences, Humans, Neurophysiology, History, 19th Century, Neurology (clinical), France, History, 20th Century, Students
Abstract

Albert Pitres (1848–1928) was an internist, neuropsychiatrist, professor of anatomy, pathology, and histology. He never really had a biography in English. However, the development of neurology and neurosciences in Bordeaux owes a lot to him, as to the psychiatrist Emmanuel Régis (1855–1918). The fact that his career was so closely linked with Charcot (1825–1893) should have secured him a more prominent place in neurology and the history of aphasiology. Pitres went on to co-author clinical and experimental research papers with Charcot that are considered some of the most notable ones among Charcot’s publications. Both carried out studies about pathological correlations between cortical lesions and hemiplegia, published series of articles and two major books about neurophysiology of motor control. To convey the atmosphere and the importance of the neurological clinic of Pitres in the heyday, we illustrate this article with unpublished photos of him.

Published
2021

7. Gait characteristics in children with Duchenne Muscular Dystrophy during the last 2 years of free ambulation (Preprint)

Author

Juliette Ropars, Laetitia Houx, Sylvain Brochard, François Rousseau, Carole Vuillerot, Yann Pereon, Jean-Marie Cuisset, Stephanie Fontaine, Julien Durigneux, Vincent Tiffreau, Arnaud Delval, Raphael Gross, Fabien Leboeuf, Ludovic Delporte, Christelle Pons, and Mathieu Lempereur

Subjects
musculoskeletal diseases, human activities
Abstract

BACKGROUND Duchenne Muscular Dystrophy (DMD), the most common neuromuscular disease in children, is a severe, progressive disease that affects skeletal muscle. Abnormal gait patterns in children with DMD result from compensatory adaptations of their locomotor system to maintain free ambulation in response to the slow, progressive muscle weakness, contractures and osteoarticular changes caused by the disease. Identification of gait abnormalities can be challenging because current understanding of how gait patterns changes progressively in children with DMD is limited. 3D gait analysis could thus increase understanding about the effects of the disease on gait, guide treatments and help to predict key milestones, such as ambulation loss. This latter event is important because it is an endpoint for clinical trials and studies of DMD disease progression. OBJECTIVE The primary aim of this study was to analyze the gait characteristics of children with Duchenne Muscular Dystrophy (DMD) during their last 2 years of free ambulation. The secondary aim was to explore the capacity of gait variables to predict the time of loss of ambulation. METHODS The gait of eighteen children with DMD and fourteen age-matched control children was recorded using a 3D optoelectronic system. Statistical parametric mapping was used to compare kinematic and kinetic variables between groups. Multivariate regression was used to identify predictors of the time of ambulation loss among spatiotemporal, kinematic and kinetic variables. RESULTS Compared with the controls, anterior pelvic tilt was increased during the whole gait cycle, hip flexion was increased during the second part of stance phase and of the entire swing, knee flexion was increased during swing, dorsiflexion was reduced during stance, and plantar flexion occurred in swing in the DMD group. Maximal ground reaction force, ankle dorsiflexion moment at initial contact, knee power absorption and generation during loading response, and maximal power generation of the hip at the end of stance were all reduced. A combination of gait variables, mostly kinetic, predicted the duration before ambulation loss to be less than three months. CONCLUSIONS The gait of children with DMD who are close to losing ambulation is characterized by specific deviations. The time of ambulation loss was accurately predicted by 3D gait variables, particularly kinetic. Combined with data from the clinical examination, 3D gait analysis provides valuable information to guide physical therapy, including targeted muscle strengthening and stretching, to help patients maintain free ambulation as long as possible.

Published
2021
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8. Cas clinique no 3

Author

Alice Kuster, Lucia Laugwitz, Guylene Lemeur, Yann Pereon, Soumeya Bekri, and Tobias Haack

Subjects
Neurology, Neurology (clinical)
Published
2022
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9. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy

Author

Victor, Ronald G, Sweeney, H. Lee, Finkel, Richard, Mcdonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M. Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David, Hoda, Abdel-Hamid, Susan, Apkon, Richard, Barohn, Elena, Belousova, Enrico, Bertini, John, Brandsema, Claudio, Bruno, William, Burnette, Russell, Butterfield, Barry, Byrne, Craig, Campbell, Jose, Carlo, Jong-Hee, Chae, Saleel, Chandratre, Giacomo, Comi, Anne, Connolly, Imelda De Groot, Nicolas, Deconinck, Joseph, Dooley, Alberto, Dubrovsky, Julien, Durigneux, Erika, Finanger, Richard, Finkel, L Matthew Frank, Nathalie, Goemans, Amy, Harper, Ayako, Hattori, Ozlem, Herguner, Susan, Iannaccone, Joanne, Janas, Yuh-Jyh, Jong, Janberd, Kirschner, Hirofumi, Komaki, Nancy, Kuntz, Wang-Tso, Lee, Edward, Leung, Jean, Mah, Katherine, Mathews, Craig, Mcdonald, Eugenio, Mercuri, Hugh, Mcmillan, Wolfgang, Mueller-Felber, Adolfo Lopez de Munain, Akinori, Nakamura, Erik, Niks, Katsuhisa, Ogata, Samuel, Pascual, Pegoraro, Elena, Yann, Pereon, Ben, Renfroe, Ratna Bhavaraju Sanka, Jens, Schallner, Ulrike, Schara, Kathryn, Selby, Isabel Illa Sendra, Laurent, Servais, Edward, Smith, Susan, Sparks, Haluk, Topaloglu, Ron, Victor, Juan Jose Vilchez, Matthew, Wicklund, Ekkehard, Wilichoswki, Brenda, Wong, L, Servais., Çocuk Sağlığı ve Hastalıkları, and Schara, Ulrike (Beitragende*r)

Subjects
0301 basic medicine, Male, Duchenne muscular dystrophy, Vasodilator Agents, International Cooperation, Left, Medizin, Placebo-controlled study, Walking, Ventricular Function, Left, law.invention, Pulmonary function testing, Tadalafil, Efficacy, 0302 clinical medicine, Randomized controlled trial, law, Heart Rate, Ventricular Function, Muscular Dystrophy, Child, Pediatric, Sciences bio-médicales et agricoles, 3. Good health, Respiratory Function Tests, Treatment Outcome, Area Under Curve, 6.1 Pharmaceuticals, Ambulatory, Cognitive Sciences, Walking -- physiology, Drug, medicine.drug, musculoskeletal diseases, Duchenne/ Becker Muscular Dystrophy, medicine.medical_specialty, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Trials and Supportive Activities, Clinical Sciences, Vasodilator Agents -- therapeutic use, Tadalafil -- therapeutic use, Placebo, Article, Dose-Response Relationship, 03 medical and health sciences, Rare Diseases, Double-Blind Method, Clinical Research, Internal medicine, medicine, Heart Rate -- physiology, Humans, Glucocorticoids, Neurology & Neurosurgery, Dose-Response Relationship, Drug, business.industry, Neurosciences, Evaluation of treatments and therapeutic interventions, medicine.disease, Duchenne, Glucocorticoids -- therapeutic use, Tadalafil DMD Study Group, Brain Disorders, Muscular Dystrophy, Duchenne, 030104 developmental biology, Musculoskeletal, Muscular Dystrophy, Duchenne -- drug therapy -- psychology, Quality of Life, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

To conduct a randomized trial to test the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens the decline in ambulatory ability in boys with Duchenne muscular dystrophy (DMD)., info:eu-repo/semantics/published

Published
2020

10. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Author

Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub, MYO-SEQ Consortium, HUSLAB, HUS Children and Adolescents, Clinicum, Medicum, and Claeys, Kristl

Subjects
0301 basic medicine, targeted exome analysis, Neuromuscular disease, Medizin, Anoctamins, 030105 genetics & heredity, Bioinformatics, 3124 Neurology and psychiatry, DNA sequencing, Article, 03 medical and health sciences, genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, 3123 Gynaecology and paediatrics, Exome Sequencing, Medicine, Humans, Exome, Gene, Genetics (clinical), Exome sequencing, SGCA, RYR1, Genetic heterogeneity, business.industry, Sciences bio-médicales et agricoles, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Glucosyltransferases, Human medicine, business
Abstract

Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology., info:eu-repo/semantics/published

Published
2020

11. Demonstration of immunomodulatory properties for the human MuStem cell population, a promising candidate for cell therapy of muscular dystrophies

Author

Marine Charrier, Judith Lorant, Rafael Contreras Lopez, Christophe Blanquart, Blandine Lieubeau-Teillet, Cindy Schleder, Isabelle Leroux, Tejedor Gauthier, Candice Babarit, Yann Pereon, Patricia Luz-Crawford, Guillaume Lamirault, Farida Djouad, Karl Rouger, Physiopathologie Animale et bioThérapie du muscle et du système nerveux (PAnTher), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire, Agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire d’Immunologie Cellulaire et Moléculaire, Centre d’investigation biomédicale, Faculté de Médecine, Faculté de Médecine, Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Immuno-Endocrinologie Cellulaire et Moléculaire (IECM), Ecole Nationale Vétérinaire de Nantes-Université de Nantes (UN)-Institut National de la Recherche Agronomique (INRA), Centre de Référence Maladies Neuromusculaires AOC, Laboratoire d’Explorations Fonctionnelles, Centre Hospitalier Universiatire Hôtel-Dieu de Nantes (CHU Hôtel-Dieu), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Université des Andes, Laboratoire d’Explorations Fonctionnelles, Centre de Référence Maladies Neuromusculaires AOC (Centre Hospitalier Universitaire Hôtel Dieu), Laboratoire d’Immunologie Cellulaire et Moléculaire, Centre d’investigation biomédicale, Développement et Pathologie du Tissu Musculaire (DPTM), Ecole Nationale Vétérinaire de Nantes-Institut National de la Recherche Agronomique (INRA), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers (CRCINA), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-Ecole Nationale Vétérinaire de Nantes, Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Nantes, UMR1183, IRMB, Hôpital Saint-Eloi, Institut National de la Santé et de la Recherche Médicale (INSERM), UMR1232, CRCINA, Immunogenic Cell Death and Mesothelioma Therapy (CRCINA-ÉQUIPE 4), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Mort cellulaire immunogénique appliquée aux traitements du mésothéliome (CRCINA - Département INCIT - Equipe 4), Université de Nantes (UN)-Université de Nantes (UN)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), ProdInra, Archive Ouverte, Institut National de la Recherche Agronomique (INRA)-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-Ecole Nationale Vétérinaire de Nantes-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), and Unité de recherche de l'institut du thorax (ITX-lab)

Subjects
[SDV] Life Sciences [q-bio], dystrophy, [SDV]Life Sciences [q-bio], education, dystrophie, thérapie cellulaire, white muscle disease, dystrophie musculaire, cell therapy, immunomodulation, humanities, health care economics and organizations
Abstract

Over the last eighteen years, the identification of stem cells in adult tissue opened new opportunities in cellbased therapy strategy. However, allogeneic cell transplantation protocols are highly limited by graft rejection. To overcome this issue, long-term immunosuppression (IS) are classically used, resulting in improved cell engraftment but also major adverse effects. Recently, many in vitro studies demonstrated pleiotropic immunomodulatory properties for adult stem cells, especially mesenchymal ones that have been shown to modulate the behavior of many immune cells through paracrine secretion or direct contact. These features could increase their ability to engraft in allogeneic recipient despite the lack of strong IS, thus improving their therapeutic efficiency. In addition, delivery of cells with immune privilege behavior may be beneficial in the context of degenerative disorders to limit chronic inflammation that characterizes tissues and interfere with the repair process. In the lab, we isolated muscle-derived stem cells (termed MuStem cells) from healthy dogs and demonstrated that their systemic delivery in dystrophic dogs submitted to continuous IS lead to muscle regeneration and long-term clinical status stabilization. Interestingly, an IS restricted to the transplantation period was shown to be sufficient to sustain their transplantation benefits and to prevent host immunity response in allogeneic context, suggesting a possible immune privilege behaviour for the hMuStem cells. Recently, human MuStem cells were isolated and characterized as exhibiting in vitro/in vivo myogenic potential, positioning them as a promising candidate for muscle-dedicated regenerative medicine. The aim of the present study is to explore the immunological-related features of hMuStem cells and more specifically the interaction with T-cell features and the complement system activation, two key effectors of allograft rejection.

Published
2019

12. Guillain-Barré syndrome during childhood: Particular clinical and electrophysiological features

Author

David Devos, Armelle Magot, Julie Perrier-Boeswillwald, Guillemette Fayet, Laurene Leclair-Visonneau, Yolaine Ollivier, Sylvie Nguyen The Tich, and Yann Pereon

Subjects
Pediatrics, medicine.medical_specialty, Guillain-Barre syndrome, Physiology, Gait Disturbance, business.industry, Leg pain, medicine.disease, University hospital, Acute motor axonal neuropathy, Gait, 3. Good health, Surgery, 03 medical and health sciences, Cellular and Molecular Neuroscience, Electrophysiology, 0302 clinical medicine, 030225 pediatrics, Physiology (medical), medicine, Neurology (clinical), Good prognosis, business, 030217 neurology & neurosurgery
Abstract

Introduction Guillain–Barre syndrome (GBS) has some specific characteristics in children. Methods In this study we reviewed the clinical, laboratory, electrophysiological, and prognosis features of the 19 children diagnosed with GBS at Nantes University Hospital from 2000 to 2011. Results Gait disturbance and leg pain were the most frequent presenting symptoms. Electrophysiological examinations revealed significant abnormalities even when performed within the first week after onset. Decreased distal CMAP amplitude was noted in 89% of cases. The pattern indicated an acute inflammatory demyelinating polyneuropathy in 95% of cases and acute motor axonal neuropathy in the remaining 5%. About two-thirds of the children were treated with intravenous immunoglobulin. After >1 year of follow-up, 17 patients had complete recovery. Conclusion Gait disorder, leg pain, a high rate of distal conduction block, and a good prognosis are among the main specific features of GBS in childhood. Muscle Nerve, 48: 247–251, 2013

Published
2013
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13. Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria

Author

Florence, Robert-Varvat, Guillemette, Jousserand, Françoise, Bouhour, Christophe, Vial, Pascal, Cintas, Andoni, Echaniz-Laguna, Emilien, Delmont, Pierre, Clavelou, Guy, Chauplannaz, Laurent, Jomir, Yann, Pereon, Sarah, Leonard-Louis, Veronique, Manel, Jean-Christophe, Antoine, Arnaud, Lacour, and Jean-Philippe, Camdessanche

Subjects
Adult, Male, Motor Neurons, Aging, Adolescent, Electrodiagnosis, Neural Conduction, Peroneal Nerve, Median Nerve, Young Adult, Pressure, Humans, Paralysis, Female, Peripheral Nerves, Age of Onset, Child, Hereditary Sensory and Motor Neuropathy, Ulnar Nerve, Demyelinating Diseases, Retrospective Studies
Abstract

In young patients with mononeuropathy who lack family history and precipitating factors, hereditary neuropathy with liability to pressure palsy (HNPP) may be a possibility. Our objective is to propose neurophysiological criteria for HNPP in patients30 years of age.We conducted a national multicenter retrospective clinical and neurophysiological study in patients under 30 with genetically confirmed HNPP.All of the 51 patients included in the study had at least 1 demyelinating pattern in 2 asymptomatic nerves, and 3 abnormalities were found in almost 90%, including slowed motor nerve conduction velocity across the elbow in at least 1 ulnar nerve (97.5%), increased distal motor latency (DML) in at least 1 fibular nerve (95.8%), and increased DML in both median nerves (89%). Age influenced DML slightly only in the fibular nerve.Dissemination of nerve involvement in HNPP incites to perform a complete nerve conduction study. including bilateral ulnar, fibular, and median nerves. Muscle Nerve 57: 217-221, 2018.

Published
2016

14. Guillain-Barré syndrome during childhood: particular clinical and electrophysiological features

Author

David, Devos, Armelle, Magot, Julie, Perrier-Boeswillwald, Guillemette, Fayet, Laurene, Leclair-Visonneau, Yolaine, Ollivier, Sylvie, Nguyen The Tich, and Yann, Pereon

Subjects
Male, Adolescent, Electromyography, Neural Conduction, Infant, Pain, Evoked Potentials, Motor, Guillain-Barre Syndrome, Child, Preschool, Humans, Female, Peripheral Nerves, Child, Gait Disorders, Neurologic, Retrospective Studies
Abstract

Guillain-Barré syndrome (GBS) has some specific characteristics in children.In this study we reviewed the clinical, laboratory, electrophysiological, and prognosis features of the 19 children diagnosed with GBS at Nantes University Hospital from 2000 to 2011.Gait disturbance and leg pain were the most frequent presenting symptoms. Electrophysiological examinations revealed significant abnormalities even when performed within the first week after onset. Decreased distal CMAP amplitude was noted in 89% of cases. The pattern indicated an acute inflammatory demyelinating polyneuropathy in 95% of cases and acute motor axonal neuropathy in the remaining 5%. About two-thirds of the children were treated with intravenous immunoglobulin. After1 year of follow-up, 17 patients had complete recovery.Gait disorder, leg pain, a high rate of distal conduction block, and a good prognosis are among the main specific features of GBS in childhood.

Published
2012

15. Respiratory evoked potentials and occlusion elicited sympathetic skin response

Author

Caroline Lanctin, Armelle Magot, Arnaud Chambellan, Sylvie Nguyen The Tich, and Yann Pereon

Subjects
Adult, Male, Sympathetic Nervous System, Stimulation, Sensory system, Electromyography, Physiology (medical), Skin Physiological Phenomena, Occlusion, Medicine, Humans, Respiratory system, Evoked potential, Evoked Potentials, Skin, medicine.diagnostic_test, business.industry, Respiration, food and beverages, General Medicine, Middle Aged, Diaphragm (structural system), Electrophysiology, Neurology, Anesthesia, Feasibility Studies, Female, Neurology (clinical), business
Abstract

Introduction. – Neurophysiological study of respiratory structures usually relies upon diaphragm electromyography and phrenic nerve conduction study, which do not assess the afferent sensory pathways. Objective. – To assess the feasibility of respiratory evoked potentials (REPs) and sympathetic skin responses (SSRs) elicited by inspiratory occlusion. Methods. – REPs and SSRs were studied in 12 healthy adults. REPs were elicited by inspiratory occlusions triggered by the physician within 1 s after the onset of a respiratory effort. They were recorded from C3, C4 and Cz needle electrodes (referenced to Fz). Each individual trial consisted of two superimposed 30-sweep averaged responses to inspiratory occlusions. SSRs were recorded from surface electrodes placed on the subject’s hand and elicited by similar inspiratory occlusions. Results. – Reproducible REPs and SSRs were obtained in all subjects. Mean latencies of initial P1 and N1 cortical responses were 41 and 72 ms, respectively. SSRs were similar to those usually elicited by peripheral nerve electrical stimulation. Conclusion. – Brief occlusion of inspiration induces cortical and sympathetic activation, both are easily recordable. Since REPs are considered to be the neurophysiological substrate of certain types of respiratory sensations and are altered in different chronic respiratory diseases, they, in addition to SSR, represent attractive new techniques that may provide better understanding of respiratory dysfunction.

Published
2004

16. Human Fetal Cell Therapy in Huntington's Disease: A Randomized, Multicenter, Phase <scp>II</scp> Trial

Author

Bachoud-Lévi, Anne-Catherine, Schramm, Catherine, Remy, Philippe, Aubin, Ghislaine, Blond, Serge, Bocket, Laurence, Brugières, Pierre, Calvas, Fabienne, Calvier, Elisabeth, Cassim, François, Challine, Dominique, Gagou, Clarisse Scherer, De Langavant, Laurent Cleret, Collier, Francis, Cottencin, Olivier, David, Philippe, Damier, Philippe, Delliaux, Marie, Delmaire, Christine, Delval, Arnaud, Démonet, Jean‐François, Descamps, Philippe, Gaura, Véronique, Gohier, Bénédicte, Goldman, Serge, Haddad, Bassam, Izopet, Jacques, Jeny, Roland, Kerr-Conte, Julie, Krystowiak, Pierre, Lalanne, Christophe, Lavisse, Sonia, Lefaucheur, Jean‐Pascal, Lemoine, Laurie, Levivier, Marc, Lotterie, Jean‐Albert, Lunel‐Fabiani, Françoise, Maison, Patrick, Massager, Nicolas, Massart, Renaud, Menei, Philippe, Montero‐Menei, Claudia, Neveu, Isabelle, Parant, Olivier, Pautot, Vivien, Payoux, Pierre, Péréon, Yann, Rialland, Amandine, Rosser, Anne, Rouard, Hélène HR, Schmitz, David, Simonetta‐Moreau, Marion, Simonin, Clémence, Slama, Hichem, Sol, Jean‐Christophe, Supiot, Frédéric, Tanguy, Jean‐Yves, Tenenbaum, Liliane, Verny, Christophe, Youssov, Katia, Peschanski, Marc, Audureau, Etienne, Palfi, Stéphane, Hantraye, Philippe, Centre de référence maladie de Huntington, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), IMRB - 'NeuroPsychologie Interventionnelle' [Créteil] (U955 Inserm - UPEC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université Paris sciences et lettres (PSL), Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), AOM00139 and AOM04021 Direction de la Recherche Clinique, Association Française contre les Myopathies., Collaborators : on behalf the Multicentric Intracerebral Grafting in Huntington's Disease Group : Catherine Schramm, Philippe Remy, Ghislaine Aubin, Serge Blond, Laurence Bocket, Pierre Brugières, Fabienne Calvas, Elisabeth Calvier, François Cassim, Dominique Challine, Clarisse Scherer Gagou, Laurent Cleret de Langavant, Francis Collier, Olivier Cottencin, Philippe David, Philippe Damier, Marie Delliaux, Christine Delmaire, Arnaud Delval, Jean-François Démonet, Philippe Descamps, Véronique Gaura, Bénédicte Gohier, Serge Goldman, Bassam Haddad, Jacques Izopet, Roland Jeny, Julie Kerr-Conte, Pierre Krystowiak, Christophe Lalanne, Sonia Lavisse, Jean-Pascal Lefaucheur, Laurie Lemoine, Marc Levivier, Jean-Albert Lotterie, Françoise Lunel-Fabiani, Patrick Maison, Nicolas Massager, Renaud Massart, Philippe Menei, Claudia Montero-Menei, Isabelle Neveu, Olivier Parant, Vivien Pautot, Pierre Payoux, Yann Pereon, Amandine Rialland, Anne Rosser, Hélène Rouard, David Schmitz, Marion Simonetta-Moreau, Clémence Simonin, Hichem Slama, Jean-Christophe Sol, Frédéric Supiot, Jean-Yves Tanguy, Liliane Tenenbaum, Christophe Verny, Katia Youssov, Marc Peschanski, Etienne Audureau, Stéphane Palfi, Philippe Hantraye., and Montero-Menei, claudia

Subjects
0301 basic medicine, medicine.medical_specialty, Neurology, Huntington s disease, MIG-' HD, Cell- and Tissue-Based Therapy, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Disease, law.invention, 03 medical and health sciences, 0302 clinical medicine, Huntington's disease, Randomized controlled trial, law, Internal medicine, medicine, Humans, Stage (cooking), Adverse effect, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, business.industry, phase 2 trial, Neurodegenerative Diseases, Sciences bio-médicales et agricoles, medicine.disease, Confidence interval, Transplantation, Huntington Disease, 030104 developmental biology, Neurology (clinical), cell therapy, business, 030217 neurology & neurosurgery
Abstract

Background\ud Huntington's disease is a rare, severe, inherited neurodegenerative disease in which we assessed the safety and efficacy of grafting human fetal ganglionic eminence intrastriatally.\ud \ud Methods\ud Patients at the early stage of the disease were enrolled in the Multicentric Intracerebral Grafting in Huntington's Disease trial, a delayed‐start phase II randomized study. After a run‐in period of 12 months, patients were randomized at month 12 to either the treatment group (transplanted at month 13–month 14) or the control group and secondarily treated 20 months later (month 33–month 34). The primary outcome was total motor score compared between both groups 20 months postrandomization (month 32). Secondary outcomes included clinical, imaging, and electrophysiological findings and a comparison of pregraft and postgraft total motor score slopes during the entire study period (month 0–month 52) regardless of the time of transplant.\ud \ud Results\ud Of 54 randomized patients, 45 were transplanted; 26 immediately (treatment) and 19 delayed (control). Mean total motor score at month 32 did not differ between groups (treated controls difference in means adjusted for M12: +2.9 [95% confidence interval, −2.8 to 8.6]; P = 0.31). Its rate of decline after transplantation was similar to that before transplantation. A total of 27 severe adverse events were recorded in the randomized patients, 10 of which were related to the transplant procedure. Improvement of procedures during the trial significantly decreased the frequency of surgical events.We found antihuman leucocytes antigen antibodies in 40% of the patients.\ud \ud Conclusion\ud No clinical benefit was found in this trial. This may have been related to graft rejection. Ectopia and high track number negatively influence the graft outcome. Procedural adjustments substantially improved surgical safety. (ClinicalTrials.gov NCT00190450.) © 2020 International Parkinson and Movement Disorder Society

Published
2020
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