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51. A phase III trial of tirasemtiv as a potential treatment for amyotrophic lateral sclerosis

Author

Shefner, Jeremy M, Cudkowicz, Merit E, Hardiman, Orla, Cockroft, Bettina M, Lee, Jacqueline H, Malik, Fady, Meng, Lisa, Rudnicki, Stacy A, Wolff, Andrew A, Andrews, Jinsy A, Van Damme, Philip, Korngut, Lawrence, Johnston, Wendy, O'Connell, Colleen, Grant, Ian, Turnbull, John, Shoesmith, Christen, Zinman, Lorne, Botez, Stephan, Genge, Angela, Dionne, Annie, Couratier, Philippe, Attarian, Shahram, Pouget, Jean, Camu, William, Desnuelle, Claude, Salachas, Francois, Corcia, Philippe, Meyer, Thomas, Petri, Susanne, Ludolph, Albert, Calvo, Andrea, Lunetta, Christian, Silani, Vincenzo, van den Berg, Leonard, de Carvalho, Mamede, Mora Pardina, Jesus, Young, Carolyn, Al-Chalabi, Ammar, Radunovic, Aleksander, Hanemann, Clemens, Ladha, Shafeeq, Goyal, Namita, Ravits, John, Lewis, Richard, Joyce, Nanette, Oskarsson, Bjorn, Katz, Jonathan S, So, Yuen, Quan, Dianna, Felice, Kevin, Bayat, Elham, Boylan, Kevin, Benatar, Michael G, Tuan, Vu, Glass, Jonathan, Sufit, Robert, Bodkin, Cynthia, Swenson, Andrea, Statland, Jeffrey, Maragakis, Nicholas, Berry, James, Brown, Robert, Salameh, Johnny, Goutman, Stephen, Newman, Daniel S, Guliani, Gaurav, Maiser, Samuel, Pestronk, Alan, Hayat, Ghazala, Pattee, Gary, Cohen, Jeffrey, Brooks, Benjamin, Bedlack, Richard, Caress, James, Mitsumoto, Hiroshi, Lange, Dale, Bradshaw, Deborah, Kolb, Stephen J, Karam, Chafic, Khoury, Julie, Goslin, Kimberly, Simmons, Zachary, Mc Cluskey, Leo, Heiman-Patterson, Terry, Donofrio, Peter, Heitzman, Daragh, Harati, Yadollah, Jackson, Carlayne, Phillips, Lawrence, Weiss, Michael, Nance, Christopher, Sultan, Shumaila, Barkhaus, Paul, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Trinity College Dublin

Subjects
amyotrophic lateral sclerosis, medicine.medical_specialty, Tirasemtiv, tirasemtiv, [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Clinical Neurology, Placebo, law.invention, ACTIVATION, DOUBLE-BLIND, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Internal medicine, medicine, In patient, Amyotrophic lateral sclerosis, Science & Technology, PLACEBO, biology, business.industry, Skeletal muscle, EFFICACY, medicine.disease, Troponin, Clinical trial, medicine.anatomical_structure, Neurology, SAFETY, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, biology.protein, Cardiology, Neurosciences & Neurology, Randomized clinical trial, Neurology (clinical), business, Life Sciences & Biomedicine, 030217 neurology & neurosurgery
Abstract

OBJECTIVE: To assess the efficacy of tirasemtiv, a fast skeletal muscle troponin activator, vs. placebo in patients with amyotrophic lateral sclerosis. Methods: VITALITY-ALS (NCT02496767) was a multinational, double-blind, randomized, placebo-controlled clinical trial. Participants tolerating 2 weeks of open-label tirasemtiv (125 mg twice daily) were randomized 3:2:2:2 to placebo or one of three target tirasemtiv dose levels, using an escalating dosage protocol lasting 28 days. The primary outcome measure was changed in slow vital capacity (SVC) at 24 weeks. Secondary endpoints included a change in muscle strength and time to respiratory milestones of disease progression. RESULTS: Of 744 participants, 565 tolerated open-label tirasemtiv and received randomized treatment. By 24 weeks, 23 (12.2%) placebo-treated participants discontinued study treatment vs. 129 (34.2%) randomized to tirasemtiv. SVC declined by 14.4% (95% CI: −16.8, −11.9) in the placebo group and 13.4% (95% CI: −15.3, −11.6) in the tirasemtiv group (p = 0.56). Secondary endpoints did not show significant differences. However, participants who tolerated tirasemtiv at their randomized dose showed a numeric trend toward a dose-related slowing of decline in SVC (p = 0.11). Dizziness, fatigue, nausea, weight loss, and insomnia occurred more frequently on tirasemtiv. Serious adverse events were similar across groups. CONCLUSIONS: Tirasemtiv did not alter the decline of SVC or significantly impact secondary outcome measures. Poor tolerability of tirasemtiv may have contributed to this result. However, participants tolerating their intended dose exhibited a trend toward treatment benefit on SVC, suggesting the underlying mechanism of action may still hold promise, as is being tested with a different fast skeletal muscle troponin activator (NCT03160898). ispartof: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION vol:20 issue:7-8 pages:584-594 ispartof: location:England status: published

Published
2019

53. Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case.

Author

De La Cruz, Elisa, Guissart, Claire, Esselin, Florence, Polge, Anne, Pageot, Nicolas, Taieb, Guillaume, Lumbroso, Serge, Camu, William, and Mouzat, Kevin

Subjects
GENETIC testing, GENETIC mutation, MOTOR neurons, FACIAL paralysis, CHROMOSOMES, HETEROZYGOSITY
Abstract

Objectives: To describe a family with heterozygous P67S and D91A SOD1 mutations. Methods: The ALS profile of the proband was described. SOD1 gene sequencing was performed in the proband and his children. Results: The affected individual presented with progressive left peripheral facial palsy and slow progression with late limb involvement. Unequivocal upper and lower motor neuron signs were present, together with diffuse denervation at myography. The absence of trigeminal involvement excluded a FOSMN syndrome. Pedigree analysis did not show any other ALS case in the family. Genetic analysis of this patient showed P67S and D91A SOD1 mutations. The genetic analysis of the children showed that the mutations were each one carried by a different chromosome. Conclusions: P67S SOD1 mutation has been described in several ALS cases, either with familial or apparently sporadic ALS. The mutation is located in a mutational hotspot and was predicted pathogenic by in silico prediction software. The study of phylogenetic data show that at this codon, the proline is highly conserved throughout species reinforcing causality. Conversely, the D91A variant is known to have a recessive influence. Unilateral motor facial involvement, even after several years, in an ALS patient is unusual. The present case with compound heterozygosity and unusual onset in a patient with apparently sporadic ALS, widens the clinical spectrum of the disease and adds further arguments to support the systematic genetic screening of all ALS cases in referral ALS clinics. [ABSTRACT FROM AUTHOR]

Published
2022
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54. Aquaporin 4 distribution in the brain and its relevance for the radiological appearance of neuromyelitis optica spectrum disease

Author

Ameli, Roxana, primary, Guttmann, Charles R.G., additional, Prieto, Juan Carlos, additional, Rollot, Fabien, additional, Palotai, Miklos, additional, Vukusic, Sandra, additional, Marignier, Romain, additional, Cotton, François, additional, Anxionnat, René, additional, Armspach, Jean-Paul, additional, Audoin, Bertrand, additional, Barillot, Christian, additional, Berry, Isabelle, additional, Bonneville, Fabrice, additional, Boutet, Claire, additional, Castelnovo, Giovanni, additional, Cervenanski, Frédéric, additional, Cohen, Mikael, additional, Commowick, Olivier, additional, De Seze, Jerome, additional, Dousset, Vincent, additional, Durand-Dubief, Francoise, additional, Edan, Gilles, additional, Ferre, Jean-Christophe, additional, Galanaud, Damien, additional, Glattard, Tristan, additional, Grand, Sylvie, additional, Guillaumont, Justine, additional, Guillevin, Rémy, additional, Hannoun, Salem, additional, Heitz, Fabrice, additional, Krainik, Alexandre, additional, Kremer, Stéphane, additional, Labauge, Pierre, additional, Menjot De Champfleur, Nicolas, additional, Ranjeva, Jean-Philippe, additional, Roch, Jean-Amédée, additional, Sappey-Marinier, Dominique, additional, Savatovsky, Julien, additional, Stankoff, Bruno, additional, Tourbah, Ayman, additional, Tourdias, Thomas, additional, Brochet, Bruno, additional, Clanet, Michel, additional, Dufay, Nathalie, additional, Laplaud, David, additional, Maze, Marie-Claire, additional, Moreau, Thibault, additional, Trolliet, Cédric, additional, Frangoulis, Bernard, additional, Olaiz, Javier, additional, Pelletier, Jean, additional, Bourre, Bertrand, additional, Brassat, David, additional, Cabre, Philippe, additional, Camdessanche, Jean-Philippe, additional, Camu, William, additional, Casez, Olivier, additional, Clavelou, Pierre, additional, Collongues, Nicolas, additional, Creange, Alain, additional, Defer, Gilles, additional, Debouverie, Marc, additional, Gout, Olivier, additional, Lebrun-Frenay, Christine, additional, Lubetzki, Catherine, additional, Papeix, Caroline, additional, Vermersch, Patrick, additional, and Zephir, Hélène, additional

Published
2021
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55. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

Author

Felbecker, Ansgar, Camu, William, Valdmanis, Paul N., Sperfeld, Anne-Dorte, Waibel, Stefan, Steinbach, Peter, Rouleau, Guy A., Ludolph, Albert C., and Andersen, Peter M.

Subjects
Superoxide dismutase -- Genetic aspects, Superoxide dismutase -- Research, Amyotrophic lateral sclerosis -- Development and progression, Amyotrophic lateral sclerosis -- Genetic aspects, Amyotrophic lateral sclerosis -- Research, Gene mutations -- Research, Pedigree analysis, Health, Psychology and mental health
Published
2010

56. A major determinant for binding and aminoacylation of tRNA in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

Author

Latour, Philippe, Thauvin-Robinet, Christel, Baudelet-Mery, Chantal, Soichot, Pierre, Cusin, Veronica, Faivre, Laurence, Locatelli, Marie-Claire, Mayencon, Martine, Sarcey, Annie, Broussolle, Emmanuel, Camu, William, David, Albert, and Rousson, Robert

Subjects
Charcot-Marie-Tooth disease -- Genetic aspects, Charcot-Marie-Tooth disease -- Diagnosis, Charcot-Marie-Tooth disease -- Care and treatment, Gene mutations -- Research, Nucleotide sequencing -- Usage, Aminoacyl-tRNA -- Research, Biological sciences
Abstract

A study analyzes two families with Charcot-Marie-Tooth disease (CMT) using genotyping and gene sequencing and identifies a unique mutation in a CMT2 locus, which affects a totally conserved amino acid in the helical domain of cytoplasmic alanyl-tRNA synthetase (AlaRS). It demonstrates that the mutation affects the binding and aminoacylation of tRNA in individuals with dominant axonal CMT, as the mutated amino acid is a major determinant of the functions.

Published
2010

57. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Author

Akimoto, Chizuru, Volk, Alexander E, van Blitterswijk, Marka, Van den Broeck, Marleen, Leblond, Claire S, Lumbroso, Serge, Camu, William, Neitzel, Birgit, Onodera, Osamu, van Rheenen, Wouter, Pinto, Susana, Weber, Markus, Smith, Bradley, Proven, Melanie, Talbot, Kevin, Keagle, Pamela, Chesi, Alessandra, Ratti, Antonia, van der Zee, Julie, Alstermark, Helena, Birve, Anna, Calini, Daniela, Nordin, Angelica, Tradowsky, Daniela C, Just, Walter, Daoud, Hussein, Angerbauer, Sabrina, DeJesus-Hernandez, Mariely, Konno, Takuya, Lloyd-Jani, Anjali, de Carvalho, Mamede, Mouzat, Kevin, Landers, John E, Veldink, Jan H, Silani, Vincenzo, Gitler, Aaron D, Shaw, Christopher E, Rouleau, Guy A, van den Berg, Leonard H, Van Broeckhoven, Christine, Rademakers, Rosa, Andersen, Peter M, and Kubisch, Christian

Published
2014
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58. Switching From Natalizumab to Fingolimod in Multiple Sclerosis: A French Prospective Study

Author

Cohen, Mikael, Maillart, Elisabeth, Tourbah, Ayman, De Sèze, Jérôme, Vukusic, Sandra, Brassat, David, Anne, Olivier, Wiertlewski, Sandrine, Camu, William, Courtois, Sylvie, Ruet, Aurélie, Debouverie, Marc, Le Page, Emmanuelle, Casez, Olivier, Heinzlef, Olivier, Stankoff, Bruno, Bourre, Bertrand, Castelnovo, Giovanni, Rico, Audrey, Berger, Eric, Camdessanche, Jean-Philippe, Defer, Gilles, Clavelou, Pierre, Al Khedr, Abdullatif, Zephir, Hélène, Fromont, Agnès, Papeix, Caroline, Brochet, Bruno, Pelletier, Jean, and Lebrun, Christine

Published
2014
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59. A phase II−III trial of olesoxime in subjects with amyotrophic lateral sclerosis

Author

Lenglet, T., Lacomblez, L., Abitbol, J. L., Ludolph, A., Mora, J. S., Robberecht, W., Shaw, P. J., Pruss, R. M., Cuvier, V., Meininger, V., Meininger, Vincent, Lacomblez, Pr Lucette, Salachas, François, Bruneteau, Gaëlle, Pradat, Pierre-François, Lenglet, Timothée, Lebouteux, Marie, Pibiri, Vanessa, Pouget, Jean, Verschueren, Annie, Campana-Salort, Emmanuelle, Attarian, Sharam, Couratier, Philippe, Nicolaud, Blerta, Lautrette, Géraldine, Camu, William, Morales, Raoul, Pageot, Nicolas, Desnuelle, Claude, Soriani, Marie-Hélène, Delmont, Emilien, Destee, Alain, Danel-Brunaud, Véronique, Devos, David, Vandenberghe, Nadia, Broussolle, Emmanuel, Vial, Christophe, Díaz, Rubén Martires Blanco, Bouhour, Françoise, Mora Pardina, Jesús S., Chaverri, Delia, Mascías, Javier, Hernández, María, Marín, Saul, Salas, Teresa, Moran, Yolanda, Robberecht, Wim, Van Damme, Philip, Demeestere, Jelle, Al-Chalabi, Ammar, Leigh, Nigel, Guevara, Carlos, Dimitrov, Nikolay, Wijesekera, Lokesh, Shaw, Pamela, McDermott, Christopher J., Rafiq, Muhammad, Ludolph, Albert, Dorst, Johannes, Waibel, Stefan, Weiland, Ulriche, Hendrich, Corinna, Dengler, Reinhardt, Petri, Suzanne, Kollewe, Katja Maureen, Schmalbach, Sonja, Cordes, Anna-Lena, Rath, Klaus, Bonzel, Linda, Bolat, Seza, Meyer, Thomas, Maier, André, Dullinger, Jörn, Linke, Peter, Holm, Teresa, Borisow, Nadja, Zierz, Stephan, and Hanisch, Frank

Published
2014
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60. Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

Author

Gros-Louis, Francois, Andersen, Peter M., Dupre, Nicolas, Urushitani, Makoto, Dion, Patrick, Souchon, Frederique, D'Amour, Monique, Camu, William, Meininger, Vincent, Bouchard, Jean-Pierre, Rouleau, Guy A., and Julien, Jean-Pierre

Subjects
Amyotrophic lateral sclerosis -- Risk factors, Amyotrophic lateral sclerosis -- Genetic aspects, Superoxide dismutase -- Properties, Motor neurons -- Genetic aspects, Protein research -- Methods, Science and technology
Abstract

Recently, chromogranins were reported to interact specifically with mutant forms of superoxide dismutase that are linked to amyotrophic lateral sclerosis (ALS). This interaction led us to analyze the frequencies of sequence variants of the CHGB gene in ALS patients and matched controls from three different countries. Of particular interest was the finding of the P413L CHGB variant present in 10% of ALS patients (n = 705) as compared to 4.5% in controls (n = 751), conferring a 2.2-fold greater relative risk to develop the disease (P < 0.0001). This effect was mainly contributed by the samples of French origin that yielded a frequency of the P413L variation at 17% in ALS (n = 289) and 5% in controls (n = 448), conferring a 3.3-fold greater risk to develop ALS. Furthermore, the P413L CHGB variant is associated with an earlier age of onset by almost a decade in both sporadic ALS and familial ALS cases. Genetic variation influencing age of onset in ALS had not previously been reported. Expression of fusion CHGB-EGFP constructs in SHSY-5Y cells revealed that the P413L variation can cause defective sorting of CHGB into secretory granules. The finding that CHGB may act as a susceptibility gene and modifier of onset in ALS is consistent with the emerging view that dysfunction of the secretory pathway may contribute to increased vulnerability of motor neurons. association study | modifier gene | motor neuron doi/10.1073/pnas.0902174106

Published
2009

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

Author

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

Published
2021
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63. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Author

Dewan, Ramita, primary, Chia, Ruth, additional, Ding, Jinhui, additional, Hickman, Richard A., additional, Stein, Thor D., additional, Abramzon, Yevgeniya, additional, Ahmed, Sarah, additional, Sabir, Marya S., additional, Portley, Makayla K., additional, Tucci, Arianna, additional, Ibáñez, Kristina, additional, Shankaracharya, F.N.U., additional, Keagle, Pamela, additional, Rossi, Giacomina, additional, Caroppo, Paola, additional, Tagliavini, Fabrizio, additional, Waldo, Maria L., additional, Johansson, Per M., additional, Nilsson, Christer F., additional, Rowe, James B., additional, Benussi, Luisa, additional, Binetti, Giuliano, additional, Ghidoni, Roberta, additional, Jabbari, Edwin, additional, Viollet, Coralie, additional, Glass, Jonathan D., additional, Singleton, Andrew B., additional, Silani, Vincenzo, additional, Ross, Owen A., additional, Ryten, Mina, additional, Torkamani, Ali, additional, Tanaka, Toshiko, additional, Ferrucci, Luigi, additional, Resnick, Susan M., additional, Pickering-Brown, Stuart, additional, Brady, Christopher B., additional, Kowal, Neil, additional, Hardy, John A., additional, Van Deerlin, Vivianna, additional, Vonsattel, Jean Paul, additional, Harms, Matthew B., additional, Morris, Huw R., additional, Ferrari, Raffaele, additional, Landers, John E., additional, Chiò, Adriano, additional, Gibbs, J. Raphael, additional, Dalgard, Clifton L., additional, Scholz, Sonja W., additional, Traynor, Bryan J., additional, Adeleye, Adelani, additional, Alba, Camille, additional, Bacikova, Dagmar, additional, Hupalo, Daniel N., additional, Martinez, Elisa McGrath, additional, Pollard, Harvey B., additional, Sukumar, Gauthaman, additional, Soltis, Anthony R., additional, Tuck, Meila, additional, Zhang, Xijun, additional, Wilkerson, Matthew D., additional, Smith, Bradley N., additional, Ticozzi, Nicola, additional, Fallini, Claudia, additional, Gkazi, Athina Soragia, additional, Topp, Simon D., additional, Kost, Jason, additional, Scotter, Emma L., additional, Kenna, Kevin P., additional, Miller, Jack W., additional, Tiloca, Cinzia, additional, Vance, Caroline, additional, Danielson, Eric W., additional, Troakes, Claire, additional, Colombrita, Claudia, additional, Al-Sarraj, Safa, additional, Lewis, Elizabeth A., additional, King, Andrew, additional, Calini, Daniela, additional, Pensato, Viviana, additional, Castellotti, Barbara, additional, de Belleroche, Jacqueline, additional, Baas, Frank, additional, ten Asbroek, Anneloor L.M.A., additional, Sapp, Peter C., additional, McKenna-Yasek, Diane, additional, McLaughlin, Russell L., additional, Polak, Meraida, additional, Asress, Seneshaw, additional, Esteban-Pérez, Jesús, additional, Muñoz-Blanco, José Luis, additional, Stevic, Zorica, additional, D’Alfonso, Sandra, additional, Mazzini, Letizia, additional, Comi, Giacomo P., additional, Del Bo, Roberto, additional, Ceroni, Mauro, additional, Gagliardi, Stella, additional, Querin, Giorgia, additional, Bertolin, Cinzia, additional, van Rheenen, Wouter, additional, Diekstra, Frank P., additional, Rademakers, Rosa, additional, van Blitterswijk, Marka, additional, Boylan, Kevin B., additional, Lauria, Giuseppe, additional, Duga, Stefano, additional, Corti, Stefania, additional, Cereda, Cristina, additional, Corrado, Lucia, additional, Sorarù, Gianni, additional, Williams, Kelly L., additional, Nicholson, Garth A., additional, Blair, Ian P., additional, Leblond-Manry, Claire, additional, Rouleau, Guy A., additional, Hardiman, Orla, additional, Morrison, Karen E., additional, Veldink, Jan H., additional, van den Berg, Leonard H., additional, Al-Chalabi, Ammar, additional, Pall, Hardev, additional, Shaw, Pamela J., additional, Turner, Martin R., additional, Talbot, Kevin, additional, Taroni, Franco, additional, García-Redondo, Alberto, additional, Wu, Zheyang, additional, Gellera, Cinzia, additional, Ratti, Antonia, additional, Brown, Robert H., additional, Shaw, Christopher E., additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Baple, Emma L., additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boissiere, Jeanne M., additional, Boustred, Christopher R., additional, Brittain, H., additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Craig, Clare E.H., additional, Daugherty, Louise C., additional, de Burca, Anna, additional, Devereau, Andrew, additional, Elgar, Greg, additional, Foulger, Rebecca E., additional, Fowler, Tom, additional, Furió-Tarí, Pedro, additional, Hackett, Joanne M., additional, Halai, Dina, additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Holman, James E., additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Lahnstein, Lea, additional, Lawson, Kay, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, Mason, Joanne, additional, McDonagh, Ellen M., additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, Odhams, Chris A., additional, Patch, Christine, additional, Perez-Gil, Daniel, additional, Polychronopoulos, Dimitris, additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Riesgo-Ferreiro, Pablo, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smedley, Damian, additional, Smith, Katherine R., additional, Sosinsky, Alona, additional, Spooner, William, additional, Stevens, Helen E., additional, Stuckey, Alexander, additional, Sultana, Razvan, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tregidgo, Carolyn, additional, Walsh, Emma, additional, Watters, Sarah A., additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, Wood, Suzanne M., additional, Zarowiecki, Magdalena, additional, Arepalli, Sampath, additional, Auluck, Pavan, additional, Baloh, Robert H., additional, Bowser, Robert, additional, Brice, Alexis, additional, Broach, James, additional, Camu, William, additional, Cooper-Knock, John, additional, Corcia, Philippe, additional, Drepper, Carsten, additional, Drory, Vivian E., additional, Dunckley, Travis L., additional, Faghri, Faraz, additional, Farren, Jennifer, additional, Feldman, Eva, additional, Floeter, Mary Kay, additional, Fratta, Pietro, additional, Gerhard, Glenn, additional, Gibson, Summer B., additional, Goutman, Stephen A., additional, Heiman-Patterson, Terry D., additional, Hernandez, Dena G., additional, Hoover, Ben, additional, Jansson, Lilja, additional, Kamel, Freya, additional, Kirby, Janine, additional, Kowall, Neil W., additional, Laaksovirta, Hannu, additional, Landi, Francesco, additional, Le Ber, Isabelle, additional, Lumbroso, Serge, additional, MacGowan, Daniel JL., additional, Maragakis, Nicholas J., additional, Mora, Gabriele, additional, Mouzat, Kevin, additional, Myllykangas, Liisa, additional, Nalls, Mike A., additional, Orrell, Richard W., additional, Ostrow, Lyle W., additional, Pamphlett, Roger, additional, Pioro, Erik, additional, Pulst, Stefan M., additional, Ravits, John M., additional, Renton, Alan E., additional, Robberecht, Wim, additional, Robey, Ian, additional, Rogaeva, Ekaterina, additional, Rothstein, Jeffrey D., additional, Sendtner, Michael, additional, Sidle, Katie C., additional, Simmons, Zachary, additional, Stone, David J., additional, Tienari, Pentti J., additional, Trojanowski, John Q., additional, Troncoso, Juan C., additional, Valori, Miko, additional, Van Damme, Philip, additional, Van Den Bosch, Ludo, additional, Zinman, Lorne, additional, Albani, Diego, additional, Borroni, Barbara, additional, Padovani, Alessandro, additional, Bruni, Amalia, additional, Clarimon, Jordi, additional, Dols-Icardo, Oriol, additional, Illán-Gala, Ignacio, additional, Lleó, Alberto, additional, Danek, Adrian, additional, Galimberti, Daniela, additional, Scarpini, Elio, additional, Serpente, Maria, additional, Graff, Caroline, additional, Chiang, Huei-Hsin, additional, Khoshnood, Behzad, additional, Öijerstedt, Linn, additional, Morris, Christopher M., additional, Nacmias, Benedetta, additional, Sorbi, Sandro, additional, Nielsen, Jorgen E., additional, Hjermind, Lynne E., additional, Novelli, Valeria, additional, Puca, Annibale A., additional, Pastor, Pau, additional, Alvarez, Ignacio, additional, Diez-Fairen, Monica, additional, Aguilar, Miquel, additional, Perneczky, Robert, additional, Diehl-Schimd, Janine, additional, Rossi, Mina, additional, Ruiz, Agustin, additional, Boada, Mercè, additional, Hernández, Isabel, additional, Moreno-Grau, Sonia, additional, Schlachetzki, Johannes C., additional, Aarsland, Dag, additional, Albert, Marilyn S., additional, Attems, Johannes, additional, Barrett, Matthew J., additional, Beach, Thomas G., additional, Bekris, Lynn M., additional, Bennett, David A., additional, Besser, Lilah M., additional, Bigio, Eileen H., additional, Black, Sandra E., additional, Boeve, Bradley F., additional, Bohannan, Ryan C., additional, Brett, Francesca, additional, Brunetti, Maura, additional, Caraway, Chad A., additional, Palma, Jose-Alberto, additional, Calvo, Andrea, additional, Canosa, Antonio, additional, Dickson, Dennis, additional, Duyckaerts, Charles, additional, Faber, Kelley, additional, Ferman, Tanis, additional, Flanagan, Margaret E., additional, Floris, Gianluca, additional, Foroud, Tatiana M., additional, Fortea, Juan, additional, Gan-Or, Ziv, additional, Gentleman, Steve, additional, Ghetti, Bernardino, additional, Gibbs, Jesse Raphael, additional, Goate, Alison, additional, Goldstein, David, additional, González-Aramburu, Isabel, additional, Graff-Radford, Neill R., additional, Hodges, Angela K., additional, Hu, Heng-Chen, additional, Hupalo, Daniel, additional, Infante, Jon, additional, Iranzo, Alex, additional, Kaiser, Scott M., additional, Kaufmann, Horacio, additional, Keith, Julia, additional, Kim, Ronald C., additional, Klein, Gregory, additional, Krüger, Rejko, additional, Kukull, Walter, additional, Kuzma, Amanda, additional, Lage, Carmen, additional, Lesage, Suzanne, additional, Leverenz, James B., additional, Logroscino, Giancarlo, additional, Lopez, Grisel, additional, Love, Seth, additional, Mao, Qinwen, additional, Marti, Maria Jose, additional, Martinez-McGrath, Elisa, additional, Masellis, Mario, additional, Masliah, Eliezer, additional, May, Patrick, additional, McKeith, Ian, additional, Mesulam, Marek-Marsel, additional, Monuki, Edwin S., additional, Newell, Kathy L., additional, Norcliffe-Kaufmann, Lucy, additional, Palmer, Laura, additional, Perkins, Matthew, additional, Pletnikova, Olga, additional, Molina-Porcel, Laura, additional, Reynolds, Regina H., additional, Rodríguez-Rodríguez, Eloy, additional, Rohrer, Jonathan D., additional, Sanchez-Juan, Pascual, additional, Scherzer, Clemens R., additional, Serrano, Geidy E., additional, Shakkottai, Vikram, additional, Sidransky, Ellen, additional, Tayebi, Nahid, additional, Thomas, Alan J., additional, Tilley, Bension S., additional, Walton, Ronald L., additional, Woltjer, Randy, additional, Wszolek, Zbigniew K., additional, Xiromerisiou, Georgia, additional, Zecca, Chiara, additional, Phatnani, Hemali, additional, Kwan, Justin, additional, Sareen, Dhruv, additional, Broach, James R., additional, Arcila-Londono, Ximena, additional, Lee, Edward B., additional, Shneider, Neil A., additional, Fraenkel, Ernest, additional, Zaitlen, Noah, additional, Berry, James D., additional, Malaspina, Andrea, additional, Cox, Gregory A., additional, Thompson, Leslie M., additional, Finkbeiner, Steve, additional, Dardiotis, Efthimios, additional, Miller, Timothy M., additional, Chandran, Siddharthan, additional, Pal, Suvankar, additional, Hornstein, Eran, additional, MacGowan, Daniel J., additional, Heiman-Patterson, Terry, additional, Hammell, Molly G., additional, Patsopoulos, Nikolaos.A., additional, Butovsky, Oleg, additional, Dubnau, Joshua, additional, Nath, Avindra, additional, Harms, Matt, additional, Aronica, Eleonora, additional, Poss, Mary, additional, Phillips-Cremins, Jennifer, additional, Crary, John, additional, Atassi, Nazem, additional, Lange, Dale J., additional, Adams, Darius J., additional, Stefanis, Leonidas, additional, Gotkine, Marc, additional, Babu, Suma, additional, Raj, Towfique, additional, Paganoni, Sabrina, additional, Shalem, Ophir, additional, Smith, Colin, additional, Zhang, Bin, additional, Harris, Brent, additional, Broce, Iris, additional, Drory, Vivian, additional, Ravits, John, additional, McMillan, Corey, additional, Menon, Vilas, additional, Wu, Lani, additional, Altschuler, Steven, additional, Amar, Khaled, additional, Archibald, Neil, additional, Bandmann, Oliver, additional, Capps, Erica, additional, Church, Alistair, additional, Coebergh, Jan, additional, Costantini, Alyssa, additional, Critchley, Peter, additional, Ghosh, Boyd CP., additional, Hu, Michele T.M., additional, Kobylecki, Christopher, additional, Leigh, P. Nigel, additional, Mann, Carl, additional, Massey, Luke A., additional, Nath, Uma, additional, Pavese, Nicola, additional, Paviour, Dominic, additional, Sharma, Jagdish, additional, and Vaughan, Jenny, additional

Published
2021
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64. Effect of familial clustering in the genetic screening of 235 French ALS families

Author

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

Published
2021
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65. Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2

Author

Giovannelli, Ilaria, primary, Bayatti, Nadhim, additional, Brown, Abigail, additional, Wang, Dennis, additional, Mickunas, Marius, additional, Camu, William, additional, Veyrune, Jean-Luc, additional, Payan, Christine, additional, Garlanda, Cecilia, additional, Locati, Massimo, additional, Juntas-Morales, Raul, additional, Pageot, Nicolas, additional, Malaspina, Andrea, additional, Andreasson, Ulf, additional, Suehs, Carey, additional, Saker, Safa, additional, Masseguin, Christophe, additional, de Vos, John, additional, Zetterberg, Henrik, additional, Al-Chalabi, Ammar, additional, Leigh, P Nigel, additional, Tree, Timothy, additional, Bensimon, Gilbert, additional, Heath, Paul R, additional, Shaw, Pamela J, additional, and Kirby, Janine, additional

Published
2021
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67. De nouvelles mutations dans ANXA11 identifiées par analyse d'exomes chez des patients atteints de SLA

Author

Teyssou, E., Ferrien, M., Muralet, F., Lautrette, Géraldine, Nicol, Marie, Machat, S., Larmonier, T., Saker, S., Boillée, S., Lobsiger, S., Bohl, D., LeGuern, E., Cazeneuve, C., Cintas, P., Meininger, V., Le Forestier, N., Amador, M., Salachas, F., Couratier, Philippe, Camu, William, Seilhean, Danielle, Millecamps, Stéphanie, Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), and Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2019

69. A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 (CRMP4) Gene is Associated with ALS

Author

Blasco, Hélène, Bernard-Marissal, Nathalie, Vourcʼh, Patrick, Guettard, Yves Olivier, Sunyach, Claire, Augereau, Olivier, Khederchah, Joelle, Mouzat, Kevin, Antar, Catherine, Gordon, Paul H., Veyrat-Durebex, Charlotte, Besson, Gérard, Andersen, Peter M., Salachas, François, Meininger, Vincent, Camu, William, Pettmann, Brigitte, Andres, Christian R., and Corcia, Philippe

Published
2013
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70. Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis

Author

Kabashi, Edor, El Oussini, Hajer, Bercier, Valérie, Gros-Louis, François, Valdmanis, Paul N., McDearmid, Jonathan, Mejier, Inge A., Dion, Patrick A., Dupre, Nicolas, Hollinger, David, Sinniger, Jérome, Dirrig-Grosch, Sylvie, Camu, William, Meininger, Vincent, Loeffler, Jean-Philippe, René, Frédérique, Drapeau, Pierre, Rouleau, Guy A., and Dupuis, Luc

Published
2013
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72. A novel locus for familial Amyotrophic lateral sclerosis, on chromosome 18q. (Report)

Author

Hand, Collette K., Khoris, Jawad, Salachas, Francois, Gros-Louis, Francois, Lopes, Ana Amelia Simoes, Mayeux-Portas, Veronique, Brown, Robert H., Jr., Meininger, Vincent, Camu, William, and Rouleau, Guy A.

Subjects
Amyotrophic lateral sclerosis -- Genetic aspects, Genetic disorders -- Research, Biological sciences
Published
2002

74. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes

Author

Millecamps, Stéphanie, Boillée, Séverine, Le Ber, Isabelle, Seilhean, Danielle, Teyssou, Elisa, Giraudeau, Marine, Moigneu, Carine, Vandenberghe, Nadia, Danel-Brunaud, Véronique, Corcia, Philippe, Pradat, Pierre-François, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaelle, Camu, William, Brice, Alexis, Cazeneuve, Cécile, LeGuern, Eric, Meininger, Vincent, and Salachas, François

Published
2012
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78. Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial

Author

Camu, William, primary, Mickunas, Marius, additional, Veyrune, Jean-Luc, additional, Payan, Christine, additional, Garlanda, Cecilia, additional, Locati, Massimo, additional, Juntas-Morales, Raul, additional, Pageot, Nicolas, additional, Malaspina, Andrea, additional, Andreasson, Ulf, additional, Kirby, Janine, additional, Suehs, Carey, additional, Saker, Safa, additional, Masseguin, Christophe, additional, De Vos, John, additional, Zetterberg, Henrik, additional, Shaw, Pamela J, additional, Al-Chalabi, Ammar, additional, Leigh, P Nigel, additional, Tree, Timothy, additional, and Bensimon, Gilbert, additional

Published
2020
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80. Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

Author

Esselin, Florence, primary, Mouzat, Kevin, additional, Polge, Anne, additional, Juntas-Morales, Raul, additional, Pageot, Nicolas, additional, De la Cruz, Elisa, additional, Bernard, Emilien, additional, Lagrange, Emmeline, additional, Danel, Véronique, additional, Alphandery, Sébastien, additional, Labar, Laura, additional, Nogué, Erika, additional, Picot, Marie-Christine, additional, Lumbroso, Serge, additional, and Camu, William, additional

Published
2020
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81. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

Author

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

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

Author

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

Published
2019
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86. ROCK-ALS: Protocol for a Randomized, Placebo-Controlled, Double-Blind Phase IIa Trial of Safety, Tolerability and Efficacy of the Rho Kinase (ROCK) Inhibitor Fasudil in Amyotrophic Lateral Sclerosis

Author

Lingor, Paul, Weber, Markus, Bidner, Helen, Blankenstein, Christiane, Frontini, Roberto, Ludolph, Albert, Koch, Jan C, Investigators, ROCK-ALS, Attarian, Shahram, Bähr, Mathias, Boentert, Matthias, Braun, Nathalie, Camu, William, Corcia, Philippe, Cordts, Isabell, Deschauer, Marcus, Grehl, Thorsten, Grosskreutz, Julian, Hermann, Andreas, Kuttler, Josua, Lengenfeldt, Teresa, Maass, Fabian, Meyer, Thomas, Friede, Tim, Petri, Susanne, Remane, Yvonne, Schmidt, Jens, Schuster, Joachim, Soriani, Marie-Hélène, Statland, Jeffrey, Weishaupt, J, Zeller, Daniel, Zielke, Eirini, Hilgers, Reinhard, Leha, Andreas, Neuwirth, Christoph, Günther, René, Benatar, Michael, and Kuzma-Kozakiewicz, Magdalena

Subjects
clinical trial protocol, amyotrophic lateral sclerosis, study design, Neurology, ROCK inhibition, disease-modification, Clinical Study Protocol, ddc:610
Abstract

Objectives: Disease-modifying therapies for amyotrophic lateral sclerosis (ALS) are still not satisfactory. The Rho kinase (ROCK) inhibitor fasudil has demonstrated beneficial effects in cell culture and animal models of ALS. For many years, fasudil has been approved in Japan for the treatment of vasospasm in patients with subarachnoid hemorrhage with a favorable safety profile. Here we describe a clinical trial protocol to repurpose fasudil as a disease-modifying therapy for ALS patients. Methods: ROCK-ALS is a multicenter, double-blind, randomized, placebo-controlled phase IIa trial of fasudil in ALS patients (EudraCT: 2017-003676-31, NCT: 03792490). Safety and tolerability are the primary endpoints. Efficacy is a secondary endpoint and will be assessed by the change in ALSFRS-R, ALSAQ-5, slow vital capacity (SVC), ECAS, and the motor unit number index (MUNIX), as well as survival. Efficacy measures will be assessed before (baseline) and immediately after the infusion therapy as well as on days 90 and 180. Patients will receive a daily dose of either 30 or 60 mg fasudil, or placebo in two intravenous applications for a total of 20 days. Regular assessments of safety will be performed throughout the treatment period, and in the follow-up period until day 180. Additionally, we will collect biological fluids to assess target engagement and evaluate potential biomarkers for disease progression. A total of 120 patients with probable or definite ALS (revised El Escorial criteria) and within 6-18 months of the onset of weakness shall be included in 16 centers in Germany, Switzerland and France. Results and conclusions: The ROCK-ALS trial is a phase IIa trial to evaluate the ROCK-inhibitor fasudil in early-stage ALS-patients that started patient recruitment in 2019. Open-Access-Publikationsfonds 2019 peerReviewed

Published
2019

88. ROCK-ALS: Protocol for a Randomized, Placebo-Controlled, Double-Blind Phase IIa Trial of Safety, Tolerability and Efficacy of the Rho Kinase (ROCK) Inhibitor Fasudil in Amyotrophic Lateral Sclerosis

Author

Lingor, Paul, Weber, Markus, Camu, William, Friede, Tim, Hilgers, Reinhard, Leha, Andreas, Neuwirth, Christoph, Günther, René, Benatar, Michael, Kuzma-Kozakiewicz, Magdalena, Bidner, Helen, Blankenstein, Christiane, Frontini, Roberto, Ludolph, Albert, and Koch, Jan C.

Subjects
ddc
Published
2018

89. Impact of a frequent nearsplice variant in amyotrophic lateral sclerosis: optimising genetic screening for gene therapy opportunities.

Author

Muratet, François, Teyssou, Elisa, Chiot, Aude, Boillée, Séverine, Lobsiger, Christian S., Bohl, Delphine, Gyorgy, Beata, Guegan, Justine, Marie, Yannick, Amador, Maria Del Mar, Salachas, Francois, Meininger, Vincent, Bernard, Emilien, Antoine, Jean-Christophe, Camdessanché, Jean-Philippe, Camu, William, Cazeneuve, Cécile, Fauret-Amsellem, Anne-Laure, Leguern, Eric, and Mouzat, Kevin

Subjects
AMYOTROPHIC lateral sclerosis, FRONTOTEMPORAL lobar degeneration, GENETIC testing, GENE therapy, SPINAL muscular atrophy, LYMPHOBLASTOID cell lines, RESEARCH, GENETIC mutation, SEQUENCE analysis, RESEARCH methodology, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, GENETIC techniques, GENEALOGY, PHENOTYPES
Abstract

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

Published
2021
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92. Neutrophins promote motor neuron survival and are present in embryonic limb bud

Author

Henderson, Christopher E., Camu, William, Mettling, Clement, Gouin, Annie, Poulsen, Kristian, Karihaloo, Mona, Rullamas, Janette, Evans, Tony, McMahon, Stephen B., Armanini, Mark P., Berkemeier, Lucy, Phillips, Heidi S., and Rosenthal, Arnon

Subjects
Neurotropin -- Research, Motor neurons -- Physiological aspects, Neurons -- Growth, Nerve growth factor -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

A study was conducted on the effect of brain-derived neurotrophic factor (BDNF), neurotrophin-3 and neurotrophin-5 on the survival of motor neurons obtained from the ventral spinal cord of rat embryos. Results showed that the three neurotrophins, in picomolar concentrations, successfully prevented spinal motor neuron death. mRNA coding for neurotrophins was also detected in spinal cord and limb bud and mRNA for their receptors was also found in motor neurons. These results indicate that BDNF, neurotrophin-5 and neurotrophin-3 are potential physiological motor neuron growth factors.

Published
1993

94. Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

Author

Millecamps, Stéphanie, Corcia, Philippe, Cazeneuve, Cécile, Boillée, Séverine, Seilhean, Danielle, Danel-Brunaud, Véronique, Vandenberghe, Nadia, Pradat, Pierre-François, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaëlle, Camu, William, Brice, Alexis, Meininger, Vincent, LeGuern, Eric, and Salachas, François

Published
2012
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98. A high-incidence cluster of ALS in the French Alps: common environment and multiple exposures

Author

Lagrange, E, Bonneterre, Vincent, Talbot, K, Couratier, Philippe, Bernard, E, Camu, William, Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Motor Neurone Disease Association in co-operation with the International Alliance of ALS/MND Associations

Subjects
[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, cluster, exposom, environment
Abstract

International audience; Background:ALS clustering is important to describe as it may be helpful for uncovering/studying potential causes of ALS.Objectives:To describe a clustering of ALS cases in a small hamlet in the French Alps and discuss potential exposures in the patients’ environment.Cases: Between 1991 and 2013, five ALS cases were described in the small hamlet of Montchavin, Savoie, France. Two of them were spouses. They have all lived in the hamlet since early childhood or birth. Patients were all neighbours and the hamlet comprised 200 persons livinghere on a regular basis. Between 2010 and 2015, seven other cases of ALS were identified in individuals that did not originate from thevillage but spent a part of their life in the area. One had lived here since 2009, another spent half of his lifetime in Montchavin, two were present during holidays for more than 20 years, and two others lived in close villages and had an activity, professional or leisure, in the hamlet.Results:The study of the cases did not identify any genetic/familial relationships between the patients and, when possible, a genetic analysis was performed and was negative. For the 5 ALS patients originating from the area, given the interval of observation, 22 years, the population of 200and the incidence of ALS, 2.5/100,000, the standardized incidence ratio¼ 45 (p50.00001). It does not seem possible to estimate an incidence ratio for the whole group of 12 patients in the cluster area, as the population during winter and summertime greatly increases, and forseven of them, exposure was not continuous.Exposures:Common exposures were found between the 12 patients: all but one practiced sport intensively, eight had a vegetable garden, six used to eat local mushrooms, five were ski teachers, and four had a restaurant. The water used for the vegetable gardens was collected immediately downstream from the ski area where snow guns were intensively using snomax for artificial snow, with a mix containing bacteria. Among the five ALS cases originating from the area, four of them were chronically exposed to polycyclic aromatic hydrocarbons, and in two houses an abnormally high level of radon was measured (4400 Beq/m3, with a maximum at 1116).Discussion:We present a highly significant cluster of ALS in a small hamlet in the French Alps. Patients are neighbours and share many exposures, some of them being known for their toxicity regarding neuronal/cellular metabolism. Others factors are more exploratory, such as vegetable gardens where heavy metals may be implicated.The investigation of BMAA is underway in the area, as well as in the patients’ brains that have been collected. four patients are still alive and these brains may be collected in the future.

Published
2017

99. Intermediate C9orf72 repeat numbers are not ALS risk factors

Author

Mouzat, Kevin, Kantar, Jovana, Polge, Anne, Blasco, Hélène, Corcia, Philippe, Couratier, Philippe, Clavelou, Pierre, Juntas-Morales, Raoul, Pageot, Nicolas, Lumbroso, Serge, Camu, William, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Université de Montpellier (UM), Service de Médecine Nucléaire, CHRU de Tours, boulevard Tonnellé, 37000 Tours, France, INSERM U930, Université François Rabelais, boulevard Tonnellé, 37000 Tours, France, INSERM CIC 1415, boulevard Tonnellé, 37000 Tours, France., Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Laboratoire de Biochimie [CHRU Tours], Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service de Neurologie [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Motor Neurone Disease Association in co-operation with the International Alliance of ALS/MND Associations, Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Gabriel Montpied [Clermont-Ferrand], and Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

Subjects
hexanucleotide repeats, C9orf72, genetics, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
Abstract

International audience; Introduction:Amyotrophic lateral sclerosis (ALS) is one of the most severe motor neuron (MN) disorders in adults. The C9orf72 repeat expansion is the most common genetic cause of the disease. Initial findings have set the pathogenic cut-off to 30 repeat. However, intermediate repeat numbers between 16 and 30 have also been proposed to be associated with ALS risk. As most studies rely on ALS patients, we performed a case-control study in a French cohort to understand the involvement of intermediate repeats on the ALS risk.Methods:In a cohort of 412 C9orf72-negative sporadic ALS patients and 327 healthy controls, the C9orf72 repeat number was assessed by Repeat-Primed PCR.Results:The most frequent alleles were two, five and eight repeats both in ALS and control groups. The highest repeat number was 22 in controls and 26 in patients. The allelic distribution was not significantly different between both groups.Conclusions:These findings show a lack of association between C9orf72 intermediate repeat numbers and the risk of developing ALS. These data suggest that repeat numbers below 30 are not an ALS risk factor in the French population and confirms the definition of theC9orf72 pathogenic cut-off.

Published
2017

100. Les répétitions intermédiaires GGGGCC du gène C9ORF72 ne sont pas un facteur de risque de SLA

Author

Mouzat, Kevin, Kantar, Jovana, Polge, Anne, Blasco, Hélène, Corcia, P., Couratier, Philippe, Clavelou, Pierre, Juntas-Morales, Raul, Pageot, Nicolas, Lumbroso, Serge, Camu, William, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Laboratoire de Biochimie et Biologie Moléculaire, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale (NET), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de compétence de la Sclérose Latérale Amyotrophique [CHU Clermont-Ferrand] (SLA), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)

Subjects
[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2017

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