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1. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author

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

Published
2021
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4. 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

5. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author

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

Published
2021
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7. Human Fetal Cell Therapy in Huntington's Disease: A Randomized, Multicenter, Phase II 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, 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, and Hantraye, Philippe

Abstract

info:eu-repo/semantics/published

Published
2020

8. Isolated Hornerʼs Syndrome May Herald Stroke

Author

de Bray, Jean-Michel, Baumgartner, Ralf, Guillon, Benoit, Pautot, Vivien, Dziewas, Rainer, Ringelstein, Erich Bernd, Sturzenegger, Matthias, Garnier, Pierre, Ducrocq, Xavier, Saudeau, Denis, Neau, Jean-Philippe, Larrue, Vincent, Vuillier, Fabrice, Boulliat, Jacques, Verret, Jean-Michel, Verny, Christophe, and Dubas, Frédéric

Published
2005

9. Risk of autoimmune diseases and human papilloma virus (HPV) vaccines: Six years of case-referent surveillance

Author

Grimaldi-Bensouda, Lamiae, primary, Rossignol, Michel, additional, Koné-Paut, Isabelle, additional, Krivitzky, Alain, additional, Lebrun-Frenay, Christine, additional, Clet, Johanna, additional, Brassat, David, additional, Papeix, Caroline, additional, Nicolino, Marc, additional, Benhamou, Pierre-Yves, additional, Fain, Olivier, additional, Costedoat-Chalumeau, Nathalie, additional, Courcoux, Marie-France, additional, Viallard, Jean-François, additional, Godeau, Bertrand, additional, Papo, Thomas, additional, Vermersch, Patrick, additional, Bourgault-Villada, Isabelle, additional, Breart, Gerard, additional, Abenhaim, Lucien, additional, Abbas, Firas, additional, Abdelmoumni, Abdelhakim, additional, Hilliquin, Pascal, additional, Requeda, Elisabeth, additional, Adoue, Daniel, additional, Agard, Christian, additional, Masseau, Agathe, additional, Aladjidi, Nathalie, additional, Fernandes, Helder, additional, Lemasson, Gwendal, additional, Perel, Yves, additional, Raymond, Isabelle, additional, Richer, Olivier, additional, Vital, Anne, additional, Allain-Launay, Emma, additional, Bru, Marie, additional, Thomas, Caroline, additional, Altman, Jean-Jacques, additional, Amsallem, Daniel, additional, Aras, Nazmiye, additional, Boukari, Latifato, additional, Dubrel, Marie, additional, Letellier, Edouard, additional, Lucidarme, Nadine, additional, Mekinian, Arsène, additional, Morin, Anne-Sophie, additional, Stirnemann, Jérôme, additional, Atlan, Catherine, additional, Audry, Dominique, additional, Augustin, Jérôme, additional, Bakir, Redouane, additional, Bartolucci, Pablo, additional, Chevalier, Xavier, additional, Guillaud, Constance, additional, Khellaf, Mehdi, additional, Limal, Nicolas, additional, Lousteau, Valentine, additional, Mahevas, Matthieu, additional, Méliksetyan, Gayane, additional, Michel, Marc, additional, Roumier, Mathilde, additional, Bayart, Sophie, additional, Bonnet, Fabrice, additional, Decaux, Olivier, additional, Bekherraz, Amine, additional, Brihaye, Benoit, additional, Dachez, Roger, additional, Daugas, Eric, additional, Hayem, Gilles, additional, Meyer, Olivier, additional, Pasqualoni, Elisa, additional, Sacre, Karim, additional, Travert, Florence, additional, Bellon, Hélène, additional, Beltrand, Jacques, additional, Lefrere, François, additional, Simon, Albane, additional, Benveniste, Olivier, additional, Bolgert, Francis, additional, De Paz, Raphael, additional, Demeret, Sophie, additional, Fautrel, Bruno, additional, Jacqueminet, Sophie, additional, Louapre, Céline, additional, Maillart, Elizabeth, additional, Morel, Nathalie, additional, Rigabert, Julie, additional, Bensaid, Philippe, additional, Berger, Claire, additional, Berquin, Patrick, additional, Le Moing, Anne-Gaëlle, additional, Berroir, Stéphane, additional, Besson, Gérard, additional, Boutte, Célia, additional, Casez, Olivier, additional, Bonnotte, Bernard, additional, Audia, Sylvain, additional, Bossu-Estour, Cécile, additional, Bourgarit, Anne, additional, Dupuy, Alain, additional, Keshmandt, Homa, additional, Bourre, Bertrand, additional, Brac, Aude, additional, Perrin, Agnès, additional, Pondarré, Corinne, additional, Villar-Fimbel, Sylvie, additional, Bruckert, Isabelle, additional, Cosson, Anne, additional, Magy-Bertrand, Nadine, additional, Tisserand, Guillaume, additional, Camu, William, additional, Carlander, Bertrand, additional, Morales, Raul Juntas, additional, Cances, Claude, additional, Pasquet, Marlene, additional, Castilla Lievre, Maria Angela, additional, Chabroux, Stephanie, additional, Charif, Mamoud, additional, Chatelus, Emmanuel, additional, Sibilia, Jean, additional, Chevrant-Breton, Jacqueline, additional, Clavel, Sylvaine, additional, Bille-Turc, Françoise, additional, Cohen, Jacques, additional, Courcoux, Marie France, additional, Leverger, Guy, additional, Machet, Laurent, additional, Cuisset, Jean-Marie, additional, Cony-Makhoul, Pascale, additional, Darsy, Paul, additional, Favre, Sandrine, additional, Giraud, Pierrick, additional, Leitenschenck, Laurence, additional, Monteiro, Irène, additional, Morati, Chafika, additional, DeSeze, Jérôme, additional, Dinulescu, Monica, additional, Dhaoui, Taher, additional, Dommange-Romero, Florence, additional, Drevard, Elisabeth, additional, Dupuis, Clémentine, additional, Dumuis, Marie-Laure, additional, Durand, Jean-Marc, additional, Farad, Samia, additional, Lecomte, Pierre, additional, Pierre, Peggy, additional, Fouyssac, Fanny, additional, Gaudin, Philippe, additional, Gautier, Alain, additional, Gellen-Dautremer, Justine, additional, Jarrin, Irène, additional, Richette, Pascal, additional, Georget, Emilie, additional, Gras, Pierre, additional, Moreau, Thibault, additional, Giraud, Eric, additional, Hacini, Maya, additional, Mayer, Anne, additional, Guillaumat, Cécile, additional, Guillaume, Séverine, additional, Guitton, Corinne, additional, Kone-Paut, Isabelle, additional, Marsaud, Céline, additional, Rossi, Linda, additional, Guyot, Marie-Hélène, additional, Hassler, Patrick, additional, Heimfert, Claude, additional, Heinzlef, Olivier, additional, Hillion, Brigitte, additional, Hocquelet, Catherine, additional, Husson, Helene, additional, Ichai, Pierre, additional, Jeziorski, Eric, additional, Deslandre, Chantal Job, additional, Le Guern, Véronique, additional, Kamenov, Kamen, additional, Kerlan, Véronique, additional, Lemoine, Philippe, additional, Misery, Laurent, additional, Pan-Petesch, Brigitte, additional, Labauge, Pierre, additional, Rodier, Michel, additional, Lacade, Chadi, additional, Razafimahefa, Berthe, additional, Lachgar, Karim, additional, Larmarau, Marie-Pierre, additional, Leblanc, Thierry, additional, Lefèbvre, Patrick, additional, Lejoyeux, Philippe, additional, Leske, Charles, additional, Ly, Kim, additional, Magy, Laurent, additional, Mansuy, Sylvie, additional, Marechaud, Richard, additional, Martin Negrier, Marie-Laure, additional, Sole, Guilhem, additional, Maupetit, Jean, additional, Mazingue, Françoise, additional, Mochon, Stéphanie, additional, Moktar, Blidi, additional, Morcamp, Donald, additional, Morlet-Barla, Nathalie, additional, Nicolas, Guillaume, additional, Pautot, Vivien, additional, Pellier, Isabelle, additional, Verret, Jean-Luc, additional, Outteryck, Olivier, additional, Pallot-Prades, Beatrice, additional, Paquet, Jean Michel, additional, Puechal, Xavier, additional, Sortais, Annie, additional, Pelletier, Jean, additional, Rico, Audrey, additional, Pez, Dominique, additional, Stankoff, Bruno, additional, Quittet, Philippe, additional, Rémy, Claude, additional, Roba, Eléna, additional, Rosario, Hélène, additional, Roudaut, Nathalie, additional, Sonnet, Emmanuel, additional, Ruel, Michel, additional, Sebban, Samuel, additional, Schaepelynck, Pauline, additional, Simonin, Marie-Jeanne, additional, Vial, Christophe, additional, Viallard, Jean-Francois, additional, Ladedan, Isabelle, additional, and Zenone, Thierry, additional

Published
2017
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12. Phenotypic and genotypic studies of ALS cases in ALS-SMA families.

Author

Bakkouche, Salah, Corcia, Philippe, Salachas, FranÇois, Meininger, Vincent, Camu, William, Dangoumau, Audrey, Vourc'h, Patrick, Blasco, Helene, Andres, Christian R., Couratier, Philippe, Bellance, Remi, Desnuelle, Claude, Viader, Fausto, Pautot, Vivien, and Millecamps, Stephanie

Subjects
AMYOTROPHIC lateral sclerosis, SPINAL muscular atrophy, PATHOLOGICAL physiology, MOTOR neuron diseases, SUPEROXIDE dismutase, GENETIC mutation, GENETICS
Abstract

Background: Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. Objectives: To collect families in which ALS and SMA patients co-exist and describe the phenotype and the genotype of ALS patients. Patients and Methods: Nine families with co-occurrence of SMA and ALS have been gathered over the last 15 years. Epidemiological, phenotype and genetic status were collected. Results: Out of the nine families, six corresponded to the criteria of familial ALS (FALS). Clinical data were available for 11 patients out of the 15 ALS cases. Mean age of onset was 58.5 years, site of onset was lower limbs in nine cases (81.8%), median duration was 22 months. Four ALS patients carried a mutation: three mutations in SOD1 gene (G147N in two cases and one with E121G) and one repeat expansion in the C9ORF72 gene. Three patients had abnormal SMN1 copy numbers. Conclusions: While the high proportion of familial history of ALS cases in these ALS-SMA pedigrees could have suggested that these familial clusters of the two most frequent MND rely on a genetic background, we failed to exclude that this occurred by chance. [ABSTRACT FROM AUTHOR]

Published
2018
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15. Declining Autopsy Rate in a French Hospital

Author

Chariot, Patrick, primary, Witt, Karine, additional, Pautot, Vivien, additional, Porcher, Raphaël, additional, Thomas, Guy, additional, Zafrani, Elie Serge, additional, and Lemaire, François, additional

Published
2000
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16. Phenotypic and genotypic studies of ALS cases in ALS-SMA families.

Author

Corcia P, Vourc'h P, Blasco H, Couratier P, Dangoumau A, Bellance R, Desnuelle C, Viader F, Pautot V, Millecamps S, Bakkouche S, Salachas F, Andres CR, Meininger V, and Camu W

Subjects
Age of Onset, Aged, Amyotrophic Lateral Sclerosis genetics, Female, Genotype, Humans, Male, Middle Aged, Muscular Atrophy, Spinal genetics, Phenotype, Amyotrophic Lateral Sclerosis complications, C9orf72 Protein genetics, Family Health, Muscular Atrophy, Spinal complications, Mutation genetics, Superoxide Dismutase-1 genetics, Survival of Motor Neuron 1 Protein genetics
Abstract

Background: Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family., Objectives: To collect families in which ALS and SMA patients co-exist and describe the phenotype and the genotype of ALS patients., Patients and Methods: Nine families with co-occurrence of SMA and ALS have been gathered over the last 15 years. Epidemiological, phenotype and genetic status were collected., Results: Out of the nine families, six corresponded to the criteria of familial ALS (FALS). Clinical data were available for 11 patients out of the 15 ALS cases. Mean age of onset was 58.5 years, site of onset was lower limbs in nine cases (81.8%), median duration was 22 months. Four ALS patients carried a mutation: three mutations in SOD1 gene (G147N in two cases and one with E121G) and one repeat expansion in the C9ORF72 gene. Three patients had abnormal SMN1 copy numbers., Conclusions: While the high proportion of familial history of ALS cases in these ALS-SMA pedigrees could have suggested that these familial clusters of the two most frequent MND rely on a genetic background, we failed to exclude that this occurred by chance.

Published
2018
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