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1. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Author

Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George, Warman-Chardon, Jodi, Claeys, Kristl, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay, Nair, Sruthi, Manousakis, Georgios, Kushlaf, Hani, Harms, Matthew, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria, Lamont, Phillipa, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, and Diaz-Manera, Jordi

Subjects
FRONTOTEMPORAL DEMENTIA, GENETICS, INCL BODY MYOSITIS, MUSCLE DISEASE, MYOPATHY
Abstract

BACKGROUND: Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Pagets disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. METHODS: Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. RESULTS: Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8±9.6 years and mean age of onset 45.6±9.3 years. Mean diagnostic delay was 7.7±6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8±7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC

Published
2022

2. Cardiac Outcomes in Adults With Mitochondrial Diseases

Author

Savvatis, Konstantinos, Vissing, Christoffer Rasmus, Klouvi, Lori, Florian, Anca, Rahman, Mehjabin, Béhin, Anthony, Fayssoil, Abdallah, Masingue, Marion, Stojkovic, Tanya, Bécane, Henri Marc, Berber, Nawal, Mochel, Fanny, Duboc, Denis, Fontaine, Bertrand, Krett, Bjørg, Stalens, Caroline, Lejeune, Julie, Pitceathly, Robert D.S., Lopes, Luis, Saadi, Malika, Gossios, Thomas, Procaccio, Vincent, Spinazzi, Marco, Tard, Céline, De Groote, Pascal, Dhaenens, Claire-Marie, Douillard, Claire, Echaniz-Laguna, Andoni, Quinlivan, Ros, Hanna, Michael G., Yilmaz, Ali, Vissing, John, Laforêt, Pascal, Elliott, Perry, and Wahbi, Karim

Published
2022
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3. Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024.

Author

Schoser, Benedikt, van der Beek, Nadine A. M. E., Broomfield, Alexander, Brusse, Esther, Diaz‐Manera, Jordi, Hahn, Andreas, Hundsberger, Thomas, Kornblum, Cornelia, Kruijshaar, Michelle, Laforet, Pascal, Mengel, Eugen, Mongini, Tiziana, Orlikowski, David, Parenti, Giancarlo, Pijnappel, W. W. M. Pim, Roberts, Mark, Scherer, Thomas, Toscano, Antonio, Vissing, John, and van den Hout, Johanna M. P.

Abstract

Background and purpose: Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late‐onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023. The European Pompe Consortium (EPOC) updates and extends the scope of the 2017 recommendations for starting, switching and stopping ERT. Methods: The European Pompe Consortium consists of 25 neuromuscular and metabolic experts from eight European countries. This update was performed after an in‐person meeting, three rounds of discussion and voting to provide a consensus recommendation. Results: The patient should be symptomatic, that is, should have skeletal muscle weakness or respiratory muscle involvement. Muscle magnetic resonance imaging findings showing substantial fat replacement can support the decision to start in a patient‐by‐patient scenario. Limited evidence supports switching ERT if there is no indication that skeletal muscle and/or respiratory function have stabilized or improved during standard ERT of 12 months or after severe infusion‐associated reactions. Switching of ERT should be discussed on a patient‐by‐patient shared‐decision basis. If there are severe, unmanageable infusion‐associated reactions and no stabilization in skeletal muscle function during the first 2 years after starting or switching treatment, stopping ERT should be considered. After stopping ERT for inefficacy, restarting ERT can be considered. Six‐monthly European Pompe Consortium muscle function assessments are recommended. Conclusions: The triple‐S criteria on ERT start, switch and stop include muscle magnetic resonance imaging as a supportive finding and the potential option of home infusion therapy. Six‐monthly long‐term monitoring of muscle function is highly recommended to cover insights into the patient's trajectory under ERT. [ABSTRACT FROM AUTHOR]

Published
2024
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4. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Author

Byrne, Barry J, Geberhiwot, Tarekegn, Barshop, Bruce A, Barohn, Richard, Hughes, Derralynn, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reilley, Kristin, Jayaram, Kala, Yang, Ke, Walsh, Liron, and on behalf of the POM-001/002 Investigators

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Chronic Liver Disease and Cirrhosis, Rare Diseases, Liver Disease, Lung, Clinical Research, Digestive Diseases, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adult, Enzyme Replacement Therapy, Female, Glycogen Storage Disease Type II, Humans, Male, Middle Aged, Muscle, Skeletal, alpha-Glucosidases, Reveglucosidase alfa, Late-onset Pompe disease, Enzyme replacement therapy, Pharmacokinetics, Safety, Efficacy, Respiratory, Pulmonary, POM-001/002 Investigators, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences
Abstract

BackgroundLate-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, a novel insulin-like growth factor 2 (IGF2)-tagged GAA analogue with improved lysosomal uptake, was developed. This study evaluated the pharmacokinetics, safety, and exploratory efficacy of reveglucosidase alfa in 22 subjects with late-onset Pompe disease who were previously untreated with rhGAA.ResultsReveglucosidase alfa plasma concentrations increased linearly with dose, and the elimination half-life was

Published
2017

5. A Caribbean case of phosphoglycerate mutase deficiency: Relevance of forearm exercise test and electroneuromyography with long exercise test in the diagnosis strategy of rare muscle glycogenosis

Author

Sarrazin, Elisabeth, primary, Laforet, Pascal, additional, Tournier, Simon, additional, Hebert, Jean-Christophe, additional, Froissart, Roseline, additional, Nicolas, Guillaume, additional, Carlier, Robert-Yves, additional, Bellance, Rémi, additional, and Giguet-Valard, Anna-Gaëlle, additional

Published
2024
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6. Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

Author

Kishnani, Priya, Tarnopolsky, Mark, Roberts, Mark, Sivakumar, Kumarswamy, Dasouki, Majed, Dimachkie, Mazen M, Finanger, Erika, Goker-Alpan, Ozlem, Guter, Karl A, Mozaffar, Tahseen, Pervaiz, Muhammad Ali, Laforet, Pascal, Levine, Todd, Adera, Matthews, Lazauskas, Richard, Sitaraman, Sheela, Khanna, Richie, Benjamin, Elfrida, Feng, Jessie, Flanagan, John J, Barth, Jay, Barlow, Carrolee, Lockhart, David J, Valenzano, Kenneth J, Boudes, Pol, Johnson, Franklin K, and Byrne, Barry

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Rare Diseases, Chronic Liver Disease and Cirrhosis, Digestive Diseases, Liver Disease, 5.1 Pharmaceuticals, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Development of treatments and therapeutic interventions, 1-Deoxynojirimycin, Administration, Oral, Adult, Drug Administration Schedule, Drug Synergism, Drug Therapy, Combination, Enzyme Replacement Therapy, Female, Glycogen Storage Disease Type II, Humans, Infusions, Intravenous, Lysosomes, Male, Middle Aged, Muscle, Skeletal, Patient Safety, Treatment Outcome, alpha-Glucosidases, Pompe disease, enzyme replacement therapy, pharmacokinetics, pharmacological chaperone, Biological Sciences, Technology, Medical and Health Sciences, Biotechnology, Genetics, Clinical sciences, Medical biotechnology
Abstract

Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. The current standard of care is enzyme replacement therapy with recombinant human GAA (alglucosidase alfa [AA], Genzyme). Based on preclinical data, oral co-administration of duvoglustat HCl with AA increases exposure of active levels in plasma and skeletal muscles, leading to greater substrate reduction in muscle. This phase 2a study consisted of an open-label, fixed-treatment sequence that evaluated the effect of single oral doses of 50 mg, 100 mg, 250 mg, or 600 mg duvoglustat HCl on the pharmacokinetics and tissue levels of intravenously infused AA (20 mg/kg) in Pompe patients. AA alone resulted in increases in total GAA activity and protein in plasma compared to baseline. Following co-administration with duvoglustat HCl, total GAA activity and protein in plasma were further increased 1.2- to 2.8-fold compared to AA alone in all 25 Pompe patients; importantly, muscle GAA activity was increased for all co-administration treatments from day 3 biopsy specimens. No duvoglustat-related adverse events or drug-related tolerability issues were identified.

Published
2017

7. Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy

Author

Fayssoil, Abdallah, primary, Mansencal, Nicolas, additional, Nguyen, Lee S., additional, Nardi, Olivier, additional, Yaou, Rabah Ben, additional, Leturcq, France, additional, Amthor, Helge, additional, Wahbi, Karim, additional, Becane, Henri Marc, additional, Lofaso, Frederic, additional, Prigent, Helene, additional, Bassez, Guillaume, additional, Behin, Anthony, additional, Stojkovic, Tanya, additional, Fontaine, Bertrand, additional, Duboc, Denis, additional, Dubourg, Olivier, additional, Clair, Bernard, additional, Laforet, Pascal, additional, Annane, Djillali, additional, and Orlikowski, David, additional

Published
2023
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9. Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression

Author

Hot, Arnaud, Grados, Aurélie, Schleinitz, Nicolas, Gallet, Laure, Streichenberger, Nathalie, Petiot, Philippe, Hachulla, Eric, Launay, David, Devilliers, Hervé, Hamidou, Mohamed, Cornec, Divy, Bienvenu, Boris, Langlois, Vincent, Levesque, Hervé, Delluc, Aurélien, Drouot, Laurent, Charuel, Jean-Luc, Jouen, Fabienne, Romero, Norma, Dubourg, Odile, Leonard-Louis, Sarah, Behin, Anthony, Laforet, Pascal, Stojkovic, Tania, Eymard, Bruno, Costedoat-Chalumeau, Nathalie, Campana-Salort, Emmanuelle, Tournadre, Anne, Musset, Lucile, Bader-Meunier, Brigitte, Kone-Paut, Isabelle, Sibilia, Jean, Servais, Laurent, Fain, Olivier, Larroche, Claire, Diot, Elizabeth, Terrier, Benjamin, De Paz, Raphaël, Dossier, Antoine, Menard, Dominique, Morati, Chafika, Roux, Marielle, Ferrer, Xavier, Martinet, Jeremy, Besnard, Sophie, Bellance, Rémi, Cacoub, Patrice, Saadoun, David, Arnaud, Laurent, Grosbois, Bernard, Herson, Serge, Boyer, Olivier, Allenbach, Yves, Leroux, Gaëlle, Suárez-Calvet, Xavier, Preusse, Corinna, Gallardo, Eduard, Hervier, Baptiste, Rigolet, Aude, Hie, Miguel, Pehl, Debora, Limal, Nicolas, Hufnagl, Peter, Zerbe, Norman, Meyer, Alain, Aouizerate, Jessie, Uzunhan, Yurdagul, Maisonobe, Thierry, Goebel, Hans-Hilmar, Benveniste, Olivier, and Stenzel, Werner

Published
2016
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10. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Author

Ben Yaou, Rabah, Hubert, Aurélie, Nelson, Isabelle, Dahlqvist, Julia R., Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frédéric, Michel, Fabrice, Malfatti, Edoardo, Romero, Norma, Carlier, Robert Yves, Eymard, Bruno, Labrune, Philippe, Duno, Morten, Krag, Thomas, Cerino, Mathieu, Bartoli, Marc, Bonne, Gisèle, Vissing, John, Laforet, Pascal, and Petit, François M.

Published
2017
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11. Proceedings of Réanimation 2017, the French Intensive Care Society International Congress

Author

Bougouin, Wulfran, Marijon, Eloi, Planquette, Benjamin, Karam, Nicole, Dumas, Florence, Celermajer, David, Jost, Daniel, Lamhaut, Lionel, Beganton, Frankie, Cariou, Alain, Meyer, Guy, Jouven, Xavier, Bureau, Côme, Charpentier, Julien, Salem, Omar Ben Hadj, Guillemet, Lucie, Arnaout, Michel, Ferre, Alexis, Geri, Guillaume, Mongardon, Nicolas, Pène, Frédéric, Chiche, Jean-Daniel, Mira, Jean-Paul, Labro, Guylaine, Belon, François, Luu, Vinh-Phuc, Chenet, Julien, Besch, Guillaume, Puyraveau, Marc, Piton, Gaël, Capellier, Gilles, Martin, Maëlle, Lascarrou, Jean-Baptiste, Le Thuaut, Aurélie, Lacherade, Jean-Claude, Martin-Lefèvre, Laurent, Fiancette, Maud, Vinatier, Isabelle, Lebert, Christine, Bachoumas, Konstantinos, Yehia, Aihem, Henry-Laguarrigue, Matthieu, Colin, Gwenhaël, Reignier, Jean, Privat, Elodie, Escutnaire, Joséphine, Dumont, Cyrielle, Baert, Valentine, Vilhelm, Christian, Hubert, Hervé, Robert-Edan, Vincent, Lakhal, Karim, Quartin, Andrew, Hobbs, Brian, Cely, Cynthia, Bell, Cynthia, Pham, Tai, Schein, Roland, Geng, Yimin, Ng, Chaan, Ehrmann, Stephan, Gandonnière, Charlotte Salmon, Boisramé-Helms, Julie, Le Tilly, Olivier, De Bretagne, Isabelle Benz, Mercier, Emmanuelle, Mankikian, Julie, Bretagnol, Anne, Meziani, Ferhat, Halimi, Jean Michel, Le Guellec, Chantal Barin, Gaudry, Stéphane, Hajage, David, Tubach, Florence, Pons, Bertrand, Boulet, Eric, Boyer, Alexandre, Chevrel, Guillaume, Lerolle, Nicolas, Carpentier, Dorothée, de Prost, Nicolas, Lautrette, Alexandre, Mayaux, Julien, Nseir, Saad, Ricard, Jean-Damien, Dreyfuss, Didier, Robert, René, Garzotto, Franscesco, Kipnis, Eric, Tetta, Ciro, Ronco, Claudio, Schnell, David, Aurelie, Bourmaud, Reynaud, Marie, Clec’h, Christophe, Benyamina, Mourad, Vincent, François, Mariat, Christophe, Bornstain, Caroline, Rouleau, Stephane, Leroy, Christophe, Cohen, Yves, Morel, Jerome, Legrand, Matthieu, Terreaux, Jeremy, Darmon, Michaël, Cantier, Marie, Morisot, Adeline, Guérot, Emmanuel, Canet, Emmanuel, De Montmollin, Etienne, Voiriot, Guillaume, Neuville, Mathilde, Timsit, Jean-François, Sonneville, Romain, Fayssoil, Abdallah, Stojkovic, Tania, Behin, Anthony, Ogna, Adam, Lofaso, Frédéric, Laforet, Pascal, Wahbi, Karim, Prigent, Helene, Duboc, Denis, Orlikowski, David, Eymard, Bruno, Annane, Djillali, Le Guennec, Loic, Cholet, Clémentine, Bréchot, Nicolas, Hekimian, Guillaume, Besset, Sébastien, Lebreton, Guillaume, Nieszkowska, Ania, Trouillet, Jean Louis, Leprince, Pascal, Combes, Alain, Luyt, Charles-Edouard, Griton, Marion, Sesay, Musa, De Panthou, Nadia Sibaï, Bienvenu, Thomas, Biais, Matthieu, Nouette-Gaulain, Karine, Fossat, Guillaume, Baudin, Florian, Coulanges, Cécile, Bobet, Sabrine, Dupont, Arnaud, Courtes, Léa, Benzekri, Dalila, Kamel, Toufik, Muller, Grégoire, Bercault, Nicolas, Barbier, François, Runge, Isabelle, Skarzynski, Marie, Mathonnet, Armelle, Boulain, Thierry, Jouan, Youenn, Teixera, Noémie, Hassen-Khodja, Claire, Guillon, Antoine, Gaborit, Christophe, Grammatico-Guillon, Leslie, Rebière, Cécile, Azoulay, Elie, Misset, Benoit, Ruckly, Stephane, Garrouste-Orgeas, Maïté, Kentish-Barnes, Nancy, Duranteau, Jacques, Thuong, Marie, Joseph, Liliane, Renault, Anne, Lesieur, Olivier, Larbi, Anne-Gaelle Si, Viquesnel, Gérald, Zuber, Benjamin, Marque, Sophie, Kandelman, Stanislas, Pichon, Nicolas, Floccard, Bernard, Galon, Marion, Chevret, Sylvie, Kentish-Barnes, Nancy, Seegers, Valérie, Legriel, Stéphane, Jaber, Samir, Lefrant, Jean Yves, Reuter, Danielle, Guisset, Olivier, Cracco, Christophe, Seguin, Amélie, Durand-Gasselin, Jacques, Thirion, Marine, Cohen-Solal, Zoé, Foulgoc, Hélène, Rogier, Julien, Delobbe, Elsa, Schortgen, Frédérique, Asfar, Pierre, Julie, Boisramé-Helms, Grimaldi, David, Fabien, Grelon, Anguel, Nadia, Sigismond, Lasocki, Matthieu, Henry-Lagarrigue, Gonzalez, Frédéric, François, Legay, Guitton, Christophe, Schenck, Maleka, Jean-Marc, Doise, Radermacher, Peter, Kentish-Barnes, Nancy, Makunza, Joseph Nsiala, Nathalie, Mejeni Kamdem, Pierre, Akilimali, Adolphe, Kilembe Manzanza, Mahieu, Rafael, Reydel, Thomas, Jamet, Angéline, Chudeau, Nicolas, Huntzinger, Julien, Grange, Steven, Courte, Anne, Lemarie, Jérémie, Gibot, Sébastien, Champey, Julia, Dellamonica, Jean, Du Cheyron, Damien, Contou, Damien, Tadié, Jean-Marc, Cour, Martin, Beduneau, Gaetan, Marchalot, Antoine, Guérin, Laurent, Jochmans, Sebastien, Terzi, Nicolas, Preau, Sebastien, Brun-Buisson, Christian, Dessap, Armand Mekontso, Vedrenne-Cloquet, Meryl, Breinig, Sophie, Jung, Camille, Brussieux, Maxime, Marcoux, Marie-Odile, Durrmeyer, Xavier, Blondé, Renaud, Angoulvant, François, Grasset, Jérôme, Naudin, Jérôme, Dauger, Stéphane, Remy, Solenn, Kolev-Descamp, Karine, Demaret, Julie, Monneret, Guillaume, Javouhey, Etienne, Chomton, Maryline, Sauthier, Michaël, Vallieres, Emilie, Jouvet, Philippe, Geslain, Guillaume, Guellec, Isabelle, Rambaud, Jérôme, Schmidt, Matthieu, Schellongowski, Peter, Dorget, Amandine, Patroniti, Nicolo, Taccone, Fabio Silvio, Miranda, Dinis Reis, Reuter, Jean, Prodanovic, Hélène, Pierrot, Marc, Balik, Martin, Park, Sunghoon, Guérin, Claude, Papazian, Laurent, Jean, Reignier, Ayzac, Louis, Loundou, Anderson, Forel, Jean-Marie, Mezidi, Mehdi, Aublanc, Mylène, Perinel-Ragey, Sophie, Lissonde, Floriane, Louf-Durier, Aurore, Tapponnier, Romain, Yonis, Hodane, Coudroy, Remi, Frat, Jean-Pierre, Boissier, Florence, Thille, Arnaud W., Richard, Flore, Le Gullou-Guillemette, Hélène, Fahri, Jonathan, Kouatchet, Achille, Bodet-Contentin, Laetitia, Garot, Denis, Le Pennec, Déborah, Vecellio, Laurent, Tavernier, Elsa, Dequin, Pierre François, Messika, Jonathan, Martin, Yolaine, Maquigneau, Natacha, Puechberty, Christelle, Stoclin, Annabelle, Villard, Serge, Dechanet, Aline, De Jong, Audrey, Monnin, Marion, Girard, Mehdi, Chanques, Gérald, Molinari, Nicolas, Decavèle, Maxens, Campion, Sébastien, Ainsouya, Roukia, Niérat, Marie-Cécile, Raux, Mathieu, Similowski, Thomas, Demoule, Alexandre, Razazi, Keyvan, Tchir, Martial, May, Faten, Carteaux, Guillaume, Pauline, Rougevin-Baville, Marc, Andronikof, Bedos, Jean Pierre, Mehrsa, Koukabi, Mauger-Briche, Carole, Mijon, François, Trouiller, Pierre, Sztrymf, Benjamin, Cretallaz, Pierre, Mermillod-Blondin, Romain, Savary, Dominique, Sedghiani, Ines, Doghri, Hamdi, Jendoubi, Asma, Hamdi, Dhekra, Cherif, Mohamed Ali, Hechmi, Youssef Zied El, Zouheir, Jerbi, Persico, Nicolas, Maltese, Francois, Ferrigno, Cécile, Bablon, Amandine, Marmillot, Cécile, Roch, Antoine, Sedghiani, Ines, Papin, Grégory, Gainnier, Marc, Argaud, Laurent, Christophe, Adrie, Souweine, Bertrand, Goldgran-Toledano, Dany, Marcotte, Guillaume, Dumenil, Anne Sylvie, Carole, Schwebel, Cecchini, Jerôme, Tuffet, Samuel, Fartoukh, Muriel, Roux, Damien, Thyrault, Martial, Armand, Mekontso Dessap, Chauveau, Simon, Wesner, Nadège, Monnier-Cholley, Laurence, Bigé, Naïke, Ait-Oufella, Hafid, Guidet, Bertrand, Dubée, Vincent, Labroca, Pierre, Lemarié, Jérémie, Chiesa, Gérard, Laroyenne, Isabelle, Borrini, Léo, Klotz, Rémi, Sy, Quoc Phan, Cristina, Marie-Christine, Paysant, Jean, Fillâtre, Pierre, Gacouin, Arnaud, Revest, Matthieu, Tattevin, Pierre, Flecher, Erwan, Le Tulzo, Yves, Jamme, Matthieu, Daviaud, Fabrice, Marin, Nathalie, Thy, Michael, Duceau, Baptiste, Ardisson, Fanny, Sandrine, Valade, Venot, Marion, Schlemmer, Benoît, Zafrani, Lara, Pons, Stéphanie, Styfalova, Lenka, Bouadma, Lila, Radjou, Aguila, Lebut, Jordane, Mourvillier, Bruno, Dorent, Richard, Dilly, Marie-Pierre, Nataf, Patrick, Wolff, Michel, Le Gall, Aëlle, Bourcier, Simon, Tandjaoui-Lambiotte, Yacine, Das, Vincent, Alves, Mikael, Bigé, Naïke, Kamilia, Chtara, Rania, Ammar, Baccouch, Najeh, Turki, Olfa, Ben, Hmida Chokri, Bahloul, Mabrouk, Bouaziz, Mounir, Dupuis, Claire, Perozziello, Anne, Letheulle, Julien, Valette, Marc, Herrmann-Storck, Cécile, Crosby, Laura, Elkoun, Khalid, Madeux, Benjamin, Martino, Frédéric, Migueres, Hélène, Piednoir, Pascale, Posch, Matthias, Thiery, Guillaume, Huynh-Ky, Minh-Tu, Bouchard, Pierre Alexandre, Sarrazin, Jean-François, Lellouche, François, Nay, Mai-Anh, Lortat-Jacob, Brice, Rozec, Bertrand, Colnot, Marion, Belin, Nicolas, Barrot, Loïc, Navellou, Jean-Christophe, Patry, Cyrille, Chaignat, Claire, Claveau, Melanie, Claude, Frédéric, Aubron, Cécile, Mcquilten, Zoe, Bailey, Michael, Board, Jasmin, Buhr, Heidi, Cartwright, Bruce, Dennis, Mark, Forrest, Paul, Hodgson, Carol, Mcilroy, David, Murphy, Deirdre, Murray, Lynnette, Pellegrino, Vincent, Pilcher, David, Sheldrake, Jayne, Tran, Huyen, Vallance, Shirley, Cooper, Jamie, Bombled, Camille, Vidal, Charles, Margetis, Dimitri, Amour, Julien, Coart, Domien, Dubois, Jasperina, Van Herpe, Tom, Mesotten, Dieter, Bailly, Sébastien, Lucet, Jc, Lepape, Alain, L’hériteau, François, Aupée, Martine, Bervas, Caroline, Boussat, Sandrine, Berger-Carbonne, Anne, Machut, Anaïs, Savey, Anne, Tudesq, Jean-Jacques, Valade, Sandrine, Galicier, Lionel, De Bazelaire, Cédric, Munoz-Bongrand, Nicolas, Mignard, Xavier, Biard, Lucie, Mokart, Djamel, Nyunga, Martine, Bruneel, Fabrice, Rabbat, Antoine, Perez, Pierre, Meert, Anne Pascale, Benoit, Dominique, Mariotte, Eric, Ehooman, Franck, Hamidfar-Roy, Rebecca, Hourmant, Yannick, Mailloux, Arnaud, Beurton, Alexandra, Teboul, Jean-Louis, Girroto, Valentina, Laura, Galarza, Richard, Christian, Monnet, Xavier, Dubée, Vincent, Merdji, Hamid, Dang, Julien, Preda, Gabriel, Baudel, Jean-Luc, Desnos, Cyrielle, Zeitouni, Michel, Belaroussi, Ines, Parrot, Antoine, Blayau, Clarisse, Fulgencio, Jean-Pierre, Quesnel, Christophe, Labbe, Vincent, De Chambrun, Marc Pineton, Beloncle, François, Merceron, Sybille, Fedun, Yannick, Lecomte, Bernard, Devaquet, Jérôme, Puidupin, Marc, Verdière, Bruno, Amoura, Zahir, Vuillard, Constance, Xavier, Jais, Bourlier, Delphine, David, Amar, Caroline, Sattler, David, Montani, Gerald, Simmoneau, Olivier, Sitbon, Humbert, Marc, Laurent, Savale, Dujardin, Olivier, Bouglé, Adrien, Ait, Hamou Nora, Salem, Joe Elie, El-Helali, Najoua, Coppere, Zoé, Gibelin, Aude, Taconet, Clementine, Djibre, Michel, Maamar, Adel, Colobert, Elen, Fillatre, Pierre, Uhel, Fabrice, Camus, Christophe, Moraly, Josquin, Dahoumane, Redouane, Maury, Eric, Tan, Boun Kim, Emmanuel, Vivier, Pauline, Misslin, Laurence, Parmeland, Philippe, Poirié, Zahar, Jean-Ralph, Catherine, Haond, Christian, Pommier, Karim, Ait-Bouziad, Mounia, Hocine, Laura, Témime, Rasoldier, Vero Hanitra, Mager, Guy, Eraldi, Jean-Pierre, Gelinotte, Stéphanie, Bougerol, François, Dehay, Julien, Rigaud, Jean-Philippe, Declercq, Pierre Louis, Michel, Julien, Aissa, Nejla, Henard, Sandrine, Guerci, Philippe, Latar, Ichraq, Levy, Bruno, Girerd, Nicolas, Kimmoun, Antoine, Abdallah, Saousen Ben, Nakaa, Sabrine, Hraiech, Kmar, Braiek, Dhouha Ben, Adhieb, Ali, M’ghirbi, Abdelwaheb, Ousji, Ali, Hammouda, Zeineb, Abroug, Fekri, Sellami, Walid, Hajjej, Zied, Samoud, Walid, Labbene, Iheb, Ferjani, Mustapha, Medhioub, Fatma Kaaniche, Allela, Rania, Algia, Najla Ben, Cherif, Samar, Attia, Delphine, Herinjatovo, Andrianjafy, Francois, Xavier Laborne, Bouhouri, Med Aziz, Slaoui, Mohamed Taoufik, Soufi, A., Khaleq, K., Hamoudi, D., Nsiri, A., Harrar, R., Maury, Eric, Goursaud, Suzanne, Gauberti, Maxime, Labeyrie, Paul-Emile, Gaberel, Thomas, Agin, Véronique, Maubert, Eric, Vivien, Denis, Gakuba, Clément, Armel, Anwar, Abdou, Rchi, Kalouch, Samira, Yaqini, Khalid, Chlilek, Aziz, Sellami, Walid, Yedder, Soumaya Ben, Tonnelier, Alexandre, Hervé, Fabien, Halley, Guillaume, Frances, Jean-Luc, Moriconi, Mickael, Saoli, Mathieu, Garnero, Aude, Demory, Didier, Arnal, Jean Michel, Canoville, Bertrand, Daubin, Cédric, Brunet, Jennifer, Ghezala, Hassen Ben, Snouda, Salah, Ben, Chiekh Imen, Kaddour, Moez, Ouanes, Islem, Marzouk, Mahdi, Haniez, Françoise, Jaillet, Hélène, Maas, Henri, Andrivet, Pierre, Darné, Christian, Viau, François, Ghezala, Hassen Ben, Ouanes, Islem, Dangers, Laurence, Montlahuc, Claire, Perbet, Sébastien, Ouanes, Islem, Hamouda, Zeineb, Nakee, Sabrine, Ouanes-Besbes, Lamia, Meddeb, Khaoula, Khedher, Ahmed, Sma, Nesrine, Ayachi, Jihene, Khelfa, Messaouda, Fraj, Nesrine, Lakhal, Hend Ben, Hammed, Hedia, Boukadida, Raja, Hafsa, Hajer, Chouchene, Imed, Boussarsar, Mohamed, Ben, Braiek Dhouha, Ouanes-Besbes, Lamia, Benatti, Kaoutar, Dafir, A., Aissaoui, W., Elallame, W., Haddad, W., Cherkab, R., Elkettani, C., Barrou, L., Hamou, Zakaria Ait, Repessé, Xavier, Charron, Cyril, Aubry, Alix, Paternot, Alexis, Maizel, Julien, Slama, Michel, Vieillard-Baron, Antoine, Trifi, Ahlem, Abdellatif, Sami, Fatnassi, Meriem, Daly, Foued, Nasri, Rochdi, Ismail, Khaoula Ben, Lakhal, Salah Ben, Bazalgette, Florian, Daurat, Aurelien, Roger, Claire, Muller, Laurent, Doyen, Denis, Plattier, Rémi, Robert, Alexandre, Hyvernat, Hervé, Bernardin, Gilles, Jozwiak, Mathieu, Gimenez, Julia, Mercado, Pablo, Depret, François, Tilouch, Najla, Mater, Houda, Habiba, Ben Sik Ali, Jaoued, Oussama, Gharbi, Rim, Hassen, Mohamed Fekih, Elatrous, Souheil, Pasquier, Pierre, Vuillemin, Quentin, Schaal, Jean-Vivien, Martinez, Thibault, Duron, Sandrine, Trousselard, Marion, Schwartzbrod, Pierre-Eric, Baugnon, Thomas, Dupic, Laurent, Gout, Caroline Duracher, De Saint Blanquat, Laure, Séguret, Sylvie, Le Ficher, Gaelle, Orliaguet, Gilles, Hubert, Philippe, Bigé, Naïke, Leblanc, Guillaume, Briand, Raphael, Brousse, Lucas, Brunet, Valentine, Chatelain, Léonard, Prat, Dominique, Jacobs, Frédéric, Demars, Nadège, Hamzaoui, Olfa, Moneger, Guy, Sztrymf, Benjamin, Duburcq-Gury, Emilie, Satre-Buisson, Léa, Duburcq, Thibault, Poissy, Julien, Robriquet, Laurent, Jourdain, Merce, Sécheresse, Thierry, Miquet, Mattéo, Simond, Alexis, Usseglio, Pascal, Hamdaoui, Yamina, Boussarsar, Mohamed, Desailly, Victoire, Brun, Patrick, Iglesias, Pauline, Huet, Jérémie, Masseran, Clémence, Claudon, Antoine, Ebeyer, Clément, Truong, Thomas, Tesnière, Antoine, Mignon, Alexandre, Gaudry, Stéphane, Resiere, Dabor, Valentino, Ruddy, Fabre, Julien, Roze, Benoit, Ferge, Jean-Louis, Charbatier, Cyrille, Marie, Sabia, Scholsser, Michel, Aitsatou, Signate, Raad, Mathieu, Cabie, Andre, Mehdaoui, Hossein, Cousin, Clement, Rousseau, Christophe, Llitjos, Jean-François, Alby-Laurent, Fanny, Toubiana, Julie, Belaidouni, Nadia, Cherruault, Marlène, Tamburini, Jérome, Bouscary, Didier, Fert, Sarah, Delile, Eugénie, Besnier, Emmanuel, Coquerel, David, Nevière, Rémi, Richard, Vincent, Tamion, Fabienne, Wei, Chaojie, Louis, Huguette, Margaux, Schmitt, Eliane, Albuisson, Sophie, Orlowski, Kimmoun, Antoine, Riad, Zakaria, Coroir, Marine, Rémy, Bernard, Camille, Bombled, Joffre, Jeremie, Aegerter, Philippe, Ilic, Dejan, Ginet, Marc, Pignard, Caroline, Nguyen, Philippe, Mourey, Guillaume, Samain, Emmanuel, Pili-Floury, Sebastien, Jouffroy, Romain, Nicolas, Caill, Alvarez, Jean-Claude, Tomasso, Maraffi, Philippe, Pascal, Raphalen, Jean-Herlé, Frédéric, J. Baud, Vivien, Benoit, Pierre, Carli, Baud, Frederic, Fredj, Hana, Blel, Youssef, Brahmi, Nozha, Ghezala, Hassen Ben, Hanak, Anne-Sophie, Malissin, Isabelle, Poupon, Joel, Risede, Patricia, Chevillard, Lucie, Megarbane, Bruno, Barghouth, Manel, M’rad, Aymen, Hmida, Marwa Ben, Thabet, Hafedh, Liang, Hao, Callebert, Jacques, Lagard, Camille, Megarbane, Bruno, Habacha, Sahar, Chatbri, Bassem, Camillerapp, Christophe, Labat, Laurence, Soichot, Marion, Garçon, Pierre, Goury, Antoine, Kerdjana, Lamia, Voicu, Sebastian, Deye, Nicolas, Megarbane, Bruno, Armel, Anwar, Anas, Benqqa, Othman, Mezgui, Moumine, S., Kalouch, S., Yakini, K. K., Chlilek, A., Hajji, Ahmed, Louati, Assaad, Khaldi, Ammar, Borgi, Aida, Ghali, Nargess, Bouziri, Asma, Menif, Khaled, Ben, Jaballah Najla, Armel, Anwar, Brochon, Jeanne, Dumitrescu, Mihaela, Thévenot, Sarah, Saulnier, Jean-Pascal, Husseini, Khaled, Laland, Catherine, Cremniter, Julie, Bousseau, Anne, Castel, Olivier, Brémaud-Csizmadia, Cassandra, Diss, Margot, Portefaix, Aurélie, Berthiller, Julien, Gillet, Yves, Aoul, Nabil Tabet, Douah, Ali, Addou, Zakaria, Youbi, Houari, Moussati, Mohamed, Belhabiche, Kamel, Mir, Souad, Abada, Sanaa, Amel, Zerhouni, Aouffen, Nabil, Bouzit, Zina, Grati, Ahmed H., Dhonneur, Gilles F., Boussarsar, Mohamed, Lau, Nicolas, Mezhari, Ilham, Roucaud, Nicolas, Le Meur, Matthieu, Paulet, Rémi, Coudray, Jean-Michel, Ghomari, Wahiba Imène, Boumlik, Reda, Peigne, Vincent, Daban, Jean-Louis, Boutonnet, Mathieu, Lenoir, Bernard, Yassine, Hafiani, Mohamed, Cheikh Chaigar, Khalid, Allali, Ihssan, Moussaid, Said, Elyoussoufi, Said, Salmi, Jazia, Amira Ben, Fatima, Jaziri, Wafa, Skouri, Maha, Bennasr, Khaoula, Ben Abdelghni, Sami, Turki, Abdallah Taeib, B., Medhioub, Fatma Kaaniche, Rollet-Cohen, Virginie, Sachs, Philippe, Merchaoui, Zied, Renolleau, Sylvain, Oualha, Mehdi, Eloi, Maxime, Jean, Sandrine, Demoulin, Maryne, Valentin, Cécile, Guilbert, Julia, Walti, Hervé, Carbajal, Ricardo, Leger, Pierre-Louis, Karaca-Altintas, Yasemin, Botte, Astrid, Labreuche, Julien, Drumez, Elodie, Devos, Patrick, Bour, Franck, Leclerc, Francis, Ahmed, Ayari, khaled, Menif, Louati, Assaad, Aida, Borgi, Ammar, Khaldi, Narjess, Ghali, Ahmed, Hajji, Asma, Bouziri, Jaballah, Nejla Ben, Leger, Pierre-Louis, Pansiot, Julien, Besson, Valérie, Palmier, Bruno, Baud, Olivier, Cauli, Bruno, Charriaut-Marlangue, Christiane, Mansuy, Amélie, Michel, Fabrice, Le Bel, Stéphane, Boubnova, Julia, Ughetto, Fabrice, Ovaert, Caroline, Fouilloux, Virginie, Paut, Olivier, Jacquet-Lagrèze, Matthias, Tiebergien, Nicolas, Hanna, Najib, Evain, Jean-Noël, Baudin, Florent, Courtil-Teyssedre, Sonia, Bompard, Dominique, Lilot, Marc, Chardonal, Laurent, Fellahi, Jean-Luc, Claverie, Claire, Pouessel, Guillaume, Dorkenoo, Aimée, Renaudin, Jean-Marie, Eb, Mireille, Deschildre, Antoine, Leteurtre, Stéphane, Yassine, Hafiani, Kamal, Belkadi, Adil, Oboukhlik, Ouafa, Aalalam, Mouhamed, Moussaoui, Rachid, Charkab, Lahoucine, Barrou, Dachraoui, Fahmi, Nakkaa, Sabrine, Zaineb, Hammouda, Mlika, Dorra, Gloulou, Olfa, Boussarsar, Mohamed, Zelmat, Setti-Aouicha, Batouche, Djamila-Djahida, Chaffi, Belkacem, Mazour, Fatima, Benatta, Nadia, Fathallah, Ines, Aloui, Rafaa, Zoubli, Aymen, Kouraichi, Nadia, Fathallah, Ines, Kouraichi, N., Salem, Shireen, Vicaut, Eric, Megarbane, Bruno, Ambroise, David, Loriot, Anne-Marie, Bourgogne, Emmanuel, Megarbane, Bruno, Ghadhoune, Hatem, Jihene, Guissouma, Trabelsi, Insaf, Allouche, Hend, Brahmi, Habib, Samet, Mohamed, Ghord, Hatem El, Lebeau, Rodolphe, Laplanche, Jean-Louis, Benturquia, Nadia, Megarbane, Bruno, Blel, Youssef, M’rad, A., Essafi, Fatma, Benabderrahim, A., Jouffroy, Romain, Resiere, Dabor, Sanchez, Bruno, Inamo, Jocelyn, Megarbane, Bruno, Batouche, Djamila-Djahida, Zerhouni, Amel, Tabeliouna, Kheira, Negadi, Amine, Mentouri, Zahia, Le Gall, Fanny, Hanouz, Jean-Luc, Normand, Hervé, Khoury, Abdo, Sall, Fatimata Seydou, De Luca, Alban, Pugin, Aurore, Pazart, Lionel, Vidal, Chrystelle, Leroux, Franck, Khoury, Abdo, L’Her, Erwan, Marjanovic, Nicolas, Khoury, Abdo, Desmettre, Thibault, Lambert, Christophe, Ragey, Sophie Perinel, Baboi, Loredana, Bazin, Jean-Etienne, Koffel, Catherine, Dhonneur, Gilles, Bouzit, Zina, Bradai, Larbi, Ayed, Issam Ben, Aissa, Fethi, Haouache, Hakim, Marechal, Yoann, Biston, Patrick, Piagnerelli, Michael, Bortolotti, Perrine, Colling, Delphine, Colas, Vincent, Voisin, Benoit, Dewavrin, Florent, Onimus, Thierry, Girardie, Patrick, Saulnier, Fabienne, Urbina, Tomas, Nguyen, Yann, Druoton, Anne-Lise, Soudant, Marc, Barraud, Damien, Conrad, Marie, Cravoisy-Popovic, Aurélie, Nace, Lionel, Bollaert, Pierre-Edouard, Martin, Ruste, Bitker, Laurent, Richard, Jean-Christophe, Brossier, David, Goyer, Isabelle, Marquis, Christopher, Lampin, Marie, Duhamel, Alain, Béhal, Hélène, Dhaoui, Tahar, Godeffroy, Véronique, Devouge, Eve, Evrard, Dominique, Delepoulle, Florence, Racoussot, Sylvie, Grandbastien, Bruno, Lampin, Marie, Heilbronner, Claire, Roy, Emeline, Masson, Alexandra, Hadchouel-Duvergé, Alice, Rigourd, Virginie, Delacroix, Elise, Wroblewski, Isabelle, Pin, Isabelle, Ego, Anne, Payen, Valerie, Debillon, Thierry, Millet, Anne, Denot, Julien, Berthelot, Véronique, Thueux, Emilie, Reymond, Marie, De Larrard, Alexandra, Amblard, Alain, Leger, Pierre-Louis, Aoul, Nabil Tabet, Lemiale, Virginie, Oziel, Johanna, Brule, Noelle, Moreau, Anne-Sophie, Marhbène, Takoua, Sellami, Salma, Jamoussi, Amira, Ayed, Samia, Mhiri, Emna, Slim, Leila, Khelil, Jalila Ben, Besbes, Mohamed, Chawki, Sylvain, Hamdi, Aicha, Ciroldi, Magali, Cottereau, Alice, Obadia, Edouard, Zerbib, Yoann, Andrejak, Claire, Ricome, Sylvie, Dupont, Hervé, Baudin, François, Dureau, Pauline, Tanguy, Audrey, Arbelot, Charlotte, Ben, Hassen Kais, Charfeddine, Ahmed, Granger, Benjamin, Laporte, Lucile, Hermetet, Coralie, Regaieg, Kais, Khemakhem, Rim, Chelly, Hedi, Cheikh, Chaigar Mohammed, Mountij, Hamid, Rghioui, Kawtar, Haddad, Wafae, Cherkab, Rachid, Barrou, Houcine, Naima, Aitmouden, bennani, Othmani M., Regaieg, Kais, Douib, Ahmed, Samet, Amal, Cungi, Pierre-Julien, Nguyen, Cédric, Cotte, Jean, D’aranda, Erwan, Meaudre, Eric, Avaro, Jean-Phillipe, Slaoui, Mohamed Taoufik, Mokline, Amel, Rahmani, Imene, Laajili, Achraf, Amri, Helmi, Gharsallah, Lazheri, Gasri, Bahija, Tlaili, Sofiene, Hammouda, Rym, Messadi, Amen Allah, Sudden Death Expertise Center, AKIKI Study Group, DO-RE-MI-FA Group, ENCEPHALITICA Study Group, for the HYPER2S Investigators and REVA Research Network, for the Purpura Fulminans Study Group, GFRUP RMEF, REVA ECMOnet, REA-RAISIN Study Group, for the EurêClark Study Group, and Groupe Communication et Simulation en Pédiatrie

Published
2017
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13. Genotype-phenotype correlations in valosin-containing protein disease

Author

Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío Nur, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George K, Warman-Chardon, Jodi, Claeys, Kristl G, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N, Nair, Sruthi S, Manousakis, Georgios, Kushlaf, Hani A, Harms, Matthew B, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria Elena, Lamont, Phillipa J, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi, VCP International Study Group, Schiava, Marianela, Caballero-Ávila, Marta, Nishino, Ichizo, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Pegoraro, Elena, Shin, Jin-Hong, Domínguez-Gonzalez, Cristina, Claeys, Kristl G., Alfano, Lindsay N., Nair, Sruthi S., Cetin, Hakan, Luo, Sushan, Weihl, Conrad, Díaz-Manera, Jordi, VCP International Study Group, Neurology, and ANS - Neuroinfection & -inflammation

Subjects
Psychiatry and Mental health, MYOPATHY, GENETICS, FRONTOTEMPORAL DEMENTIA, INCL BODY MYOSITIS, MUSCLE DISEASE, Surgery, Human medicine, Neurology (clinical)
Abstract

[ntroduction] Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations., [Methods] Descriptive retrospective study collecting clinical and genetic data from patients with confirmed mutations in the VCP gene in 52 centres from 24 countries., [Results] We included 234 patients (70% males, mean age 55.54 + 9.6 years [y]). Mean age at symptom onset 45.6 + 9.3 y, mean diagnostic delay 7.74 + 6 y, and mean time of disease progression 11.3 + 6.9 y. Disease onset was symmetric lower limb weakness in 50% of the patients progressing towards generalized muscle weakness affecting proximal and distal lower and upper limb muscles. Other clinical features included: respiratory symptoms in 40.3%, PBD in 26.7%, dysautonomia in 21.4%, upper and lower motor neuron signs in 13.3% and 21.85%, and FTD in 13.9% of the patient. Fifty-eight genetic variants were identified being the most frequent the c.464G>A, p.Arg155His in 28% of the patients and the c.463C>T, p.Arg155Cys in 11.1%. Twenty new mutations were identified. The c.463C>T, p.Arg155Cys variant had the earliest age of onset (37.8 + 7.6 y) among the 4 most frequent variants and a higher frequency of axial weakness, distal upper limb weakness, scapula winging and mix cognitive. 19.1% of the patients were full time wheelchair users and 4.0% (9/225) were bedridden at a median of 8.5 y and 15 y from onset. Thirty–seven patients died at a mean age of 63.9 + 8.1 and at a mean of 15.8 + 6.6 y from disease onset, 7 due to respiratory insufficiency and 5 due to rapidly progressive dementia. The presence of a FVC< 50% was associated with being full time wheelchair user/ bedridden and the presence of a FVC, [Conclusion] The heterogeneous clinical features of VCP could resemble other neuromuscular conditions. The c.463C>T p.Arg155Cys variant seems to have an earlier age of onset and more severe phenotype. Presence of FVC

Published
2022

14. Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1

Author

Morin, Alexandre, primary, Funkiewiez, Aurelie, additional, Routier, Alexandre, additional, Le Bouc, Raphael, additional, Borderies, Nicolas, additional, Galanaud, Damien, additional, Levy, Richard, additional, Pessiglione, Mathias, additional, Dubois, Bruno, additional, Eymard, Bruno, additional, Michon, Claire-Cecile, additional, Angeard, Nathalie, additional, Behin, Anthony, additional, Laforet, Pascal, additional, Stojkovic, Tanya, additional, and Azuar, Carole, additional

Published
2022
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15. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Author

Schiava, Marianela [0000-0002-2709-265X], Caballero-Ávila, Marta [0000-0001-9850-8504], Nishino, Ichizo [0000-0001-9452-112X], Zanoteli, Edmar [0000-0002-4991-6760], Souza, Paulo Victor Sgobbi [0000-0002-7416-7108], Tasca, Giorgio [0000-0003-0849-9144], Pegoraro, Elena [0000-0002-7740-4156], Shin, Jin-Hong [0000-0002-5174-286X], Domínguez-Gonzalez, Cristina [0000-0001-5151-988X], Claeys, Kristl G. [0000-0001-9937-443X], Alfano, Lindsay N. [0000-0002-2263-7569], Nair, Sruthi S. [0000-0001-5463-5229], Cetin, Hakan [0000-0001-9009-7261], Luo, Sushan [0000-0002-9033-7568], Weihl, Conrad [0000-0002-3816-6124], Díaz-Manera, Jordi [0000-0003-2941-7988], Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío Nur, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lloyd, Thomas, López de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-Gonzalez, Cristina, Papadimas, George K., Warman-Chardon, Jodi, Claeys, Kristl G., Visser, Marianne de, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N., Nair, Sruthi S., Manousakis, Georgios, Kushlaf, Hani A., Harms, Matthew B., Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria Elena, Lamont, Phillipa J., Quinn, Colin, Nedkova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Díaz-Manera, Jordi, VCP International Study Group, Schiava, Marianela [0000-0002-2709-265X], Caballero-Ávila, Marta [0000-0001-9850-8504], Nishino, Ichizo [0000-0001-9452-112X], Zanoteli, Edmar [0000-0002-4991-6760], Souza, Paulo Victor Sgobbi [0000-0002-7416-7108], Tasca, Giorgio [0000-0003-0849-9144], Pegoraro, Elena [0000-0002-7740-4156], Shin, Jin-Hong [0000-0002-5174-286X], Domínguez-Gonzalez, Cristina [0000-0001-5151-988X], Claeys, Kristl G. [0000-0001-9937-443X], Alfano, Lindsay N. [0000-0002-2263-7569], Nair, Sruthi S. [0000-0001-5463-5229], Cetin, Hakan [0000-0001-9009-7261], Luo, Sushan [0000-0002-9033-7568], Weihl, Conrad [0000-0002-3816-6124], Díaz-Manera, Jordi [0000-0003-2941-7988], Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío Nur, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lloyd, Thomas, López de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-Gonzalez, Cristina, Papadimas, George K., Warman-Chardon, Jodi, Claeys, Kristl G., Visser, Marianne de, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N., Nair, Sruthi S., Manousakis, Georgios, Kushlaf, Hani A., Harms, Matthew B., Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria Elena, Lamont, Phillipa J., Quinn, Colin, Nedkova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Díaz-Manera, Jordi, and VCP International Study Group

Abstract

[ntroduction] Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations., [Methods] Descriptive retrospective study collecting clinical and genetic data from patients with confirmed mutations in the VCP gene in 52 centres from 24 countries., [Results] We included 234 patients (70% males, mean age 55.54 + 9.6 years [y]). Mean age at symptom onset 45.6 + 9.3 y, mean diagnostic delay 7.74 + 6 y, and mean time of disease progression 11.3 + 6.9 y. Disease onset was symmetric lower limb weakness in 50% of the patients progressing towards generalized muscle weakness affecting proximal and distal lower and upper limb muscles. Other clinical features included: respiratory symptoms in 40.3%, PBD in 26.7%, dysautonomia in 21.4%, upper and lower motor neuron signs in 13.3% and 21.85%, and FTD in 13.9% of the patient. Fifty-eight genetic variants were identified being the most frequent the c.464G>A, p.Arg155His in 28% of the patients and the c.463C>T, p.Arg155Cys in 11.1%. Twenty new mutations were identified. The c.463C>T, p.Arg155Cys variant had the earliest age of onset (37.8 + 7.6 y) among the 4 most frequent variants and a higher frequency of axial weakness, distal upper limb weakness, scapula winging and mix cognitive. 19.1% of the patients were full time wheelchair users and 4.0% (9/225) were bedridden at a median of 8.5 y and 15 y from onset. Thirty–seven patients died at a mean age of 63.9 + 8.1 and at a mean of 15.8 + 6.6 y from disease onset, 7 due to respiratory insufficiency and 5 due to rapidly progressive dementia. The presence of a FVC< 50% was associated with being full time wheelchair user/ bedridden and the presence of a FVC<70% and being full-time wheelchair/bedridden were associated with death., [Conclusion] The heterogeneous clinical features of VCP could resemble other neuromuscular conditions. The c.463C>T p.Arg155Cys variant seems to have an earlier age of onset and more severe phenotype. Presence of FVC<50% is a independent risk factor for loss of ambulation and FVC<70% and FTD are independent risk factor for death.

Published
2022

16. No effect of triheptanoin in patients with phosphofructokinase deficiency

Author

Raaschou-Pedersen, Daniel Emil, Madsen, Karen Lindhardt, Lokken, Nicoline, Storgaard, Jesper Helbo, Quinlivan, Ros, Laforet, Pascal, Lund, Allan, Van Hall, Gerrit, Vissing, John, Orngreen, Mette, Raaschou-Pedersen, Daniel Emil, Madsen, Karen Lindhardt, Lokken, Nicoline, Storgaard, Jesper Helbo, Quinlivan, Ros, Laforet, Pascal, Lund, Allan, Van Hall, Gerrit, Vissing, John, and Orngreen, Mette

Abstract

Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity blocks the oxidative pathway from glucose and glycogen to pyruvate. Patients suffer from myopathy, exercise intolerance, and myoglobinuria. Currently, there is no specific treatment for PFKD. We hypothesized that 2 weeks treatment with triheptanoin could improve oxidative metabolism during exercise by bypassing the blocked pyruvate generation in PFKD. The study was a randomized, double-blind, placebo-controlled crossover study. Three genetically verified patients completed two treatment periods of 14 days each with triheptanoin (0.3-1 g x kg -1 x day -1 ) or placebo liquid. Primary outcomes were heart rate, fatty acid and total oxidation measured via stable isotope and indirect calorimetry methodology during submaximal exercise. Triheptanoin did not improve the primary outcome heart rate during submaximal exercise compared to placebo . Palmitate oxidation was increased during submaximal exercise in one patient but did not increase in the two other patients during triheptanoin treatment. Palmitate production and palmitate utilization increased during exercise and increased to a greater extent with triheptanoin treatment in all three patients. This study suggests that triheptanoin treatment has no effect on heart rate or exercise performance despite increased palmitate production and utilization in patients with PFKD. (c) 2022 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/ )

Published
2022

17. Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles

Author

Le Gall, Laura, primary, Duddy, William J., additional, Martinat, Cecile, additional, Mariot, Virginie, additional, Connolly, Owen, additional, Milla, Vanessa, additional, Anakor, Ekene, additional, Ouandaogo, Zamalou G., additional, Millecamps, Stephanie, additional, Lainé, Jeanne, additional, Vijayakumar, Udaya Geetha, additional, Knoblach, Susan, additional, Raoul, Cedric, additional, Lucas, Olivier, additional, Loeffler, Jean Philippe, additional, Bede, Peter, additional, Behin, Anthony, additional, Blasco, Helene, additional, Bruneteau, Gaelle, additional, Del Mar Amador, Maria, additional, Devos, David, additional, Henriques, Alexandre, additional, Hesters, Adele, additional, Lacomblez, Lucette, additional, Laforet, Pascal, additional, Langlet, Timothee, additional, Leblanc, Pascal, additional, Le Forestier, Nadine, additional, Maisonobe, Thierry, additional, Meininger, Vincent, additional, Robelin, Laura, additional, Salachas, Francois, additional, Stojkovic, Tanya, additional, Querin, Giorgia, additional, Dumonceaux, Julie, additional, Butler Browne, Gillian, additional, González De Aguilar, Jose‐Luis, additional, Duguez, Stephanie, additional, and Pradat, Pierre Francois, additional

Published
2022
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18. High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

Author

Lemmers, Richard J L F, primary, van der Vliet, Patrick J, additional, Granado, David San Leon, additional, van der Stoep, Nienke, additional, Buermans, Henk, additional, van Schendel, Robin, additional, Schimmel, Joost, additional, de Visser, Marianne, additional, van Coster, Rudy, additional, Jeanpierre, Marc, additional, Laforet, Pascal, additional, Upadhyaya, Meena, additional, van Engelen, Baziel, additional, Sacconi, Sabrina, additional, Tawil, Rabi, additional, Voermans, Nicol C, additional, Rogers, Mark, additional, and van der Maarel, Silvère M, additional

Published
2021
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19. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience

Author

van der Ploeg, A. T., Kruijshaar, M. E., Toscano, A., Laforêt, P., Angelini, C., Lachmann, R. H., Pascual Pascual, S. I., Roberts, M., Rösler, K., Stulnig, T., van Doorn, P. A., Van den Bergh, P. Y. K., Vissing, J., Schoser, B., Bembi, Bruno, Broomfield, Alexander, Boentert, Matthias, Desnuelle, Claude, Findling, Oliver, Hahn, Andreas, Díaz-Manera, Jordi, Hundsberger, Thomas, Kornblum, Cornelia, Labarthé, Franҫois, Laforet, Pascal, Mengel, Karl-Eugen, Mongini, Tiziana, Muller-Felber, Wolfgang, Parenti, Giancarlo, Pijnappel, W. Pim, Preisler, Nicolai, Sacconi, Sabrina, Talim, Beril, Tardieu, Marine, van der Beek, Nadine A. M. E, Wenninger, Stephan, Pediatrics, Neurology, UCL - SSS/IONS/NEUR - Clinical Neuroscience, and UCL - (SLuc) Service de neurologie

Subjects
0301 basic medicine, Pediatrics, alglucosidase alfa, алглюкозидаза альфа, adult patients, Disease, болезнь помпе, enzyme replacement therapy, guidelines, Pompe disease, treatment recommendations, Adult, Consensus, Drug Administration Schedule, Europe, Glycogen Storage Disease Type II, Humans, Practice Guidelines as Topic, Enzyme Replacement Therapy, Quality of Life, Neurology, Neurology (clinical), 0302 clinical medicine, Quality of life, взрослые пациенты, 610 Medicine & health, Treatment recommendations, Adult patients, Alglucosidase alfa, Enzyme replacement therapy, Guidelines, ферментная заместительная терапия, руководство, medicine.drug, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Muscle disorder, 03 medical and health sciences, medicine, RC346-429, Pregnancy, business.industry, nutritional and metabolic diseases, medicine.disease, Clinical trial, рекомендации по лечению, 030104 developmental biology, Physical therapy, Observational study, Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery
Abstract

Введение. Болезнь Помпе – редкое наследственное мышечное заболевание, для лечения которого с 2006 г. применяют ферментную заместительную терапию. В документе представлены последние рекомендации по началу и прекращению ферментной заместительной терапии у взрослых пациентов. Методы. В ходе Европейского консорциума по болезни Помпе эксперты из 11 европейских стран обсудили данные литературы об эффективности ферментной заместительной терапии у взрослых пациентов на основании оценки показателей прогноза клинического течения и качества жизни больных. В данной статье представлены результаты обсуждений 3 согласительных совещаний во время консорциума. Результаты. Специалисты пришли к соглашению относительно подтверждения диагноза болезни Помпе, сроков начала ферментной заместительной терапии, показаний и условий ее прекращения и применения во время беременности. Общее соглашение по перечисленным вопросам принято на основании мнения экспертов и подтверждено данными литературы. При проведении исследований в группах были получены данные о положительном эффекте ферментной заместительной терапии. Анализ проводили при оценке 586 взрослых пациентов из 1 клинического испытания и 43 наблюдательных исследований. Обратили внимание на индивидуальные различия в эффективности лечения, обнаруженные в отдельных сообщениях. В 11 наблюдательных исследованиях, включающих пациентов с тяжелой степенью поражения, также была доказана эффективность ферментной заместительной терапии. Исследования эффектов лечения у больных на доклинической стадии заболевания отсутствуют. Выводы. В ходе 1-го Европейского консорциума на основании международного экспертного мнения составлены рекомендации по началу и прекращению ферментной заместительной терапии у взрослых пациентов с болезнью Помпе. Ключевые слова: взрослые пациенты, алглюкозидаза альфа, ферментная заместительная терапия, руководство, болезнь Помпе, рекомендации по лечению

Published
2019

21. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Author

Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A, Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C, Carlier, Robert Y, Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A, Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C, and Carlier, Robert Y

Abstract

BACKGROUND: Limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine protease of skeletal muscle, and it represents the most frequent type of LGMD worldwide. In the last few years, muscle magnetic resonance imaging (MRI) has been proposed as a tool for identifying patterns of muscular involvement in genetic disorders and as a biomarker of disease progression in muscle diseases. In this study, 57 molecularly confirmed LGMDR1 patients from a European cohort (age range 7-78 years) underwent muscle MRI and a global evaluation of functional status (Gardner-Medwin and Walton score and ability to raise the arms).RESULTS: We confirmed a specific pattern of fatty substitution involving predominantly the hip adductors and hamstrings in lower limbs. Spine extensors were more severely affected than spine rotators, in agreement with higher incidence of lordosis than scoliosis in LGMDR1. Hierarchical clustering of lower limb MRI scores showed that involvement of anterior thigh muscles discriminates between classes of disease progression. Severity of muscle fatty substitution was significantly correlated with CAPN3 mutations: in particular, patients with no or one "null" alleles showed a milder involvement, compared to patients with two null alleles (i.e., predicting absence of calpain-3 protein). Expectedly, fat infiltration scores strongly correlated with functional measures. The "pseudocollagen" sign (central areas of sparing in some muscle) was associated with longer and more severe disease course.CONCLUSIONS: We conclude that skeletal muscle MRI represents a useful tool in the diagnostic workup and clinical management of LGMDR1.

Published
2020

22. High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

Author

Lemmers, Richard J L F, Vliet, Patrick J van der, Granado, David San Leon, van der Stoep, Nienke, Buermans, Henk, Schendel, Robin van, Schimmel, Joost, Visser, Marianne de, Coster, Rudy van, Jeanpierre, Marc, Laforet, Pascal, Upadhyaya, Meena, Engelen, Baziel van, Sacconi, Sabrina, Tawil, Rabi, Voermans, Nicol C, Rogers, Mark, and Maarel, Silvère M van der

Published
2022
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23. Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation

Author

Fayssoil, Abdallah, Yaou, Rabah Ben, Ogna, Adam, Leturcq, France, Nardi, Olivier, Clair, Bernard, Wahbi, Karim, Lofaso, Frederic, Laforet, Pascal, Duboc, Denis, Orlikowski, David, and Annane, Djillali

Subjects
musculoskeletal diseases, Duchenne muscular dystrophy, Adult, Male, Time Factors, Heart failure, N‐terminal domain, Dystrophin, Young Adult, Original Research Articles, Humans, Original Research Article, Retrospective Studies, Stroke Volume, Middle Aged, Prognosis, Home Care Services, Respiration, Artificial, Muscular Dystrophy, Duchenne, Survival Rate, Becker muscular dystrophy, Acute Disease, Rod domain, Female, France, Follow-Up Studies
Abstract

Aims Duchenne muscular dystrophy (DMD) is characterized by respiratory and heart involvements. In the context of permanently wheelchair bound and on mechanical ventilation (MV) patients, the clinical presentation of acute heart failure (AHF) syndrome may be atypical. We sought to describe clinical and genetic profiles and to determine prognosis of DMD and Becker muscular dystrophy (BMD) patients on home MV (HMV), hospitalized for AHF. Methods and results We included genetically proven DMD and BMD patients on HMV admitted for AHF. A total of 13 patients (11 DMD and 2 BMD) fulfilled the inclusion criteria. Median age was 34.0 [interquartile range (IQR) 26.0; 40.0] years. Median pulmonary vital capacity was 9.0% (6.0; 15.0) of predicted value. Long‐term invasive ventilation was performed in 69% of patients. All the 11 DMD patients carried out‐of‐frame DMD gene mutations. At admission, dyspnoea was present in 46%, lipothymia in 23%, and abdominal discomfort in 38.4% of patients. A total of 53.8% of patients showed anasarca. Cardiogenic shock presentation was found in six patients (46%). Ejection fraction was severely altered [median 25% (IQR 20; 30)]. Intra‐hospital mortality rate was 30%, reaching 53.8 % after 1 year. Previous episodes of AHF ≥ 2 were associated with intra‐hospital mortality (P = 0.025). In patients with cardiogenic shock, intra‐hospital mortality rate was 66.6%, reaching 83.3% after 1 year. Conclusions In adult DMD and BMD patients with severe ejection fraction alteration and on HMV, admitted for AHF, right cardiac signs are frequent. The intra‐hospital and 1 year mortality rate was high and was associated with previous episodes of AHF ≥ 2.

Published
2017

24. Congenital myopathies are mainly associated with a mild cardiac phenotype

Author

Petri, Helle, Wahbi, Karim, Witting, Nanna, Køber, Lars, Bundgaard, Henning, Kamoun, Emna, Vellieux, Geoffroy, Stojkovic, Tanya, Béhin, Anthony, Laforet, Pascal, Vissing, John, Petri, Helle, Wahbi, Karim, Witting, Nanna, Køber, Lars, Bundgaard, Henning, Kamoun, Emna, Vellieux, Geoffroy, Stojkovic, Tanya, Béhin, Anthony, Laforet, Pascal, and Vissing, John

Abstract

BACKGROUND: To evaluate the prevalence of cardiac involvement in patients with congenital myopathies and the association to specific genotypes.METHODS: We evaluated patients with physical examination, electrocardiogram, echocardiography, and 48-h Holter monitoring. Follow-up was performed for major events.RESULTS: We included 130 patients, 55 men (42%), with a mean age of 34 ± 17 years. A genetic diagnosis was established in 97 patients (75%). Right bundle branch block was observed in three patients: 2/34 patients with a ryanodine receptor 1 (RYR1) and 1/6 with a tropomyosin two gene (TPM2) gene mutation. Echocardiography showed left-ventricular hypertrophy in five patients: 2/17 and 3/34 patients with a Dynamin 2 (DNM2) and a RYR1 mutation, respectively. One patient with a myosin heavy-chain (MYH7) mutation had dilated cardiomyopathy and heart failure. On Holter monitoring, frequent ventricular premature contractions were observed in one patient with a DNM2 mutation. Two patients with a TPM2 and a RYR1 mutation, respectively, had a single short run of non-sustained ventricular tachycardia. Atrioventricular nodal re-entry tachycardia was observed in a 20-year-old man with an actin 1 gene mutation. During follow-up (median 8.4 years), four patients died, all of non-cardiac causes.CONCLUSION: Congenital myopathies are generally associated with a mild cardiac phenotype. Our findings substantiate the literature and indicate that, except for patients with specific genotypes, such as MYH7 and TTN mutations, repeated cardiac assessments can be minimized, given a normal initial cardiac screening at time of diagnosis.

Published
2019

25. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

Author

Alonso-Jimenez, Alicia, Kroon, Rosemarie H M J M, Alejaldre-Monforte, Aida, Nuñez-Peralta, Claudia, Horlings, Corinne G C, van Engelen, Baziel G M, Olivé, Montse, González, Laura, Verges-Gil, Enric, Paradas, Carmen, Márquez, Celedonio, Garibaldi, Matteo, Gallano, Pía, Rodriguez, Maria José, Gonzalez-Quereda, Lidia, Dominguez Gonzalez, Cristina, Vissing, John, Fornander, Freja, Eisum, Anne-Sofie Vibæk, García-Sobrino, Tania, Pardo, Julio, García-Figueiras, Roberto, Muelas, Nuria, Vilchez, Juan Jesús, Kapetanovic, Solange, Tasca, Giorgio, Monforte, Mauro, Ricci, Enzo, Gomez, María Teresa, Bevilacqua, Jorge Alfredo, Diaz-Jara, Jorge, Zamorano, Ivonne Ingrid, Carlier, Robert Yves, Laforet, Pascal, Pelayo-Negro, Ana, Ramos-Fransi, Alba, Martínez, Amaia, Marini-Bettolo, Chiara, Straub, Volker, Gutiérrez, Gerardo, Stojkovic, Tanya, Martín, María Asunción, Morís, Germán, Fernández-Torrón, Roberto, Lopez De Munaín, Adolfo, Cortes-Vicente, Elena, Querol, Luis, Rojas-García, Ricardo, Illa, Isabel, Diaz-Manera, Jordi, Alonso-Jimenez, Alicia, Kroon, Rosemarie H M J M, Alejaldre-Monforte, Aida, Nuñez-Peralta, Claudia, Horlings, Corinne G C, van Engelen, Baziel G M, Olivé, Montse, González, Laura, Verges-Gil, Enric, Paradas, Carmen, Márquez, Celedonio, Garibaldi, Matteo, Gallano, Pía, Rodriguez, Maria José, Gonzalez-Quereda, Lidia, Dominguez Gonzalez, Cristina, Vissing, John, Fornander, Freja, Eisum, Anne-Sofie Vibæk, García-Sobrino, Tania, Pardo, Julio, García-Figueiras, Roberto, Muelas, Nuria, Vilchez, Juan Jesús, Kapetanovic, Solange, Tasca, Giorgio, Monforte, Mauro, Ricci, Enzo, Gomez, María Teresa, Bevilacqua, Jorge Alfredo, Diaz-Jara, Jorge, Zamorano, Ivonne Ingrid, Carlier, Robert Yves, Laforet, Pascal, Pelayo-Negro, Ana, Ramos-Fransi, Alba, Martínez, Amaia, Marini-Bettolo, Chiara, Straub, Volker, Gutiérrez, Gerardo, Stojkovic, Tanya, Martín, María Asunción, Morís, Germán, Fernández-Torrón, Roberto, Lopez De Munaín, Adolfo, Cortes-Vicente, Elena, Querol, Luis, Rojas-García, Ricardo, Illa, Isabel, and Diaz-Manera, Jordi

Abstract

BACKGROUND AND OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data.METHODS: We present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data.RESULTS: Fatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively with disease duration and functional impairment.CONCLUSIONS: We have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue, adductor magnus and soleus can be helpful for differential diagnosis. The findings suggest the natural history of the disease from a radiological point of view. The information generated by this study is of high diagnostic value and important for clinical trial development.

Published
2019

26. The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

Author

Querin, Giorgia, El Mendili, Mohamed-Mounir, Lenglet, Timothée, Behin, Anthony, Stojkovic, Tanya, Salachas, François, Devos, David, Le Forestier, Nadine, Del Mar Amador, Maria, Debs, Rabab, Lacomblez, Lucette, Meininger, Vincent, Bruneteau, Gaëlle, Cohen-Adad, Julien, Lehéricy, Stéphane, Laforet, Pascal, Blancho, Sophie, Benali, Habib, Catala, Martin, Li, Menghan, Marchand-Pauvert, Véronique, Hogrel, Jean-Yves, Bede, Peter, Pradat, Pierre-François, Querin, Giorgia, El Mendili, Mohamed-Mounir, Lenglet, Timothée, Behin, Anthony, Stojkovic, Tanya, Salachas, François, Devos, David, Le Forestier, Nadine, Del Mar Amador, Maria, Debs, Rabab, Lacomblez, Lucette, Meininger, Vincent, Bruneteau, Gaëlle, Cohen-Adad, Julien, Lehéricy, Stéphane, Laforet, Pascal, Blancho, Sophie, Benali, Habib, Catala, Martin, Li, Menghan, Marchand-Pauvert, Véronique, Hogrel, Jean-Yves, Bede, Peter, and Pradat, Pierre-François

Abstract

Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been consistently reported in mouse models. The objective of this study is the characterisation of spinal and cerebral pathology in adult forms of SMA using multimodal quantitative imaging. METHODS: Twenty-five type III and IV adult SMA patients and 25 age-matched healthy controls were enrolled in a spinal cord and brain imaging study. Structural measures of grey and white matter involvement and diffusion parameters of white matter integrity were evaluated at each cervical spinal level. Whole-brain and region-of-interest analyses were also conducted in the brain to explore cortical thickness, grey matter density and tract-based white matter alterations. RESULTS: In the spinal cord, considerable grey matter atrophy was detected between C2-C6 vertebral levels. In the brain, increased grey matter density was detected in motor and extra-motor regions of SMA patients. No white matter pathology was identified neither at brain and spinal level. CONCLUSIONS: Adult forms of SMA are associated with selective grey matter degeneration in the spinal cord with preserved white matter integrity. The observed increased grey matter density in the motor cortex may represent adaptive reorganisation.

Published
2019

27. Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis

Author

Fayssoil, Abdallah, Ben Yaou, Rabah, Ogna, Adam, Chaffaut, Cendrine, Leturcq, France, Nardi, Olivier, Wahbi, Karim, Duboc, Denis, Lofaso, Frederic, Prigent, Helene, Clair, Bernard, Crenn, Pascal, Nicolas, Guillaume, Laforet, Pascal, Behin, Anthony, Chevret, Sylvie, Orlikowski, David, and Annane, Djillali

Subjects
Adult, Male, Heredity, Genetic Linkage, Bundle-Branch Block, Cardiology, lcsh:Medicine, Duchenne Muscular Dystrophy, Biochemistry, Muscular Dystrophies, Dystrophin, Young Adult, Protein Domains, Diagnostic Medicine, Medicine and Health Sciences, Genetics, Prevalence, Point Mutation, Humans, Genetic Predisposition to Disease, lcsh:Science, Retrospective Studies, Heart Failure, Clinical Genetics, lcsh:R, Biology and Life Sciences, Proteins, Prognosis, Muscular Dystrophy, Duchenne, Cytoskeletal Proteins, Deletion Mutation, Neurology, X-Linked Traits, Sex Linkage, Mutation, Female, lcsh:Q, Research Article
Abstract

Background Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. We designed this study to determine the prevalence of left bundle branch block (LBBB), whether there is a relationship between LBBB and genetic pattern, and to assess predictive factors for acute cardiac events and mortality in adult DMD patients. Methods We reviewed the charts of DMD followed at the Home Mechanical Ventilation Unit of the Raymond Poincare University Hospital. Results A total of 121 patients, aged from 18 to 41 years have been included in our study. Median vital capacity (VC) was 12% [7; 19.5] of predicted. Almost all patients were on home mechanical ventilation (95%). LBBB was present in 15 patients (13%); among them, 10 disclosed exonic deletions. After a median follow up of 6 years, 21 patients (17%) experienced acute heart failure (AHF), 7 patients (6%) supraventricular arrhythmia, 3 patients (2.4%) ventricular tachycardia, 4 patients (3%) significant electrical disturbances. LBBB was significantly associated with cardiac events (OR = 12.7; 95%CI [3.78–42.7]; p

Published
2018

29. Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders

Author

Fayssoil, Abdallah, primary, Nguyen, Lee S., additional, Ogna, Adam, additional, Stojkovic, Tanya, additional, Meng, Paris, additional, Mompoint, Dominique, additional, Carlier, Robert, additional, Prigent, Helene, additional, Clair, Bernard, additional, Behin, Anthony, additional, Laforet, Pascal, additional, Bassez, Guillaume, additional, Crenn, Pascal, additional, Orlikowski, David, additional, Annane, Djillali, additional, Eymard, Bruno, additional, and Lofaso, Frederic, additional

Published
2019
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31. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data

Author

Porcher, Raphaël, Desguerre, Isabelle, Amthor, Helge, Chabrol, Brigitte, Audic, Frédérique, Rivier, François, Isapof, Arnaud, Tiffreau, Vincent, Campana-Salort, Emmanuelle, Leturcq, France, Tuffery-Giraud, Sylvie, Yaou, Rabah Ben, Annane, Djillali, Amédro, Pascal, Barnerias, Christine, Bécane, Henri Marc, Béhin, Anthony, Bonnet, Damien, Bassez, Guillaume, Cossée, Mireille, de La Villéon, Grégoire, Delcourte, Claire, Fayssoil, Abdallah, Fontaine, Bertrand, Godart, François, Guillaumont, Sophie, Jaillette, Emmanuelle, Laforêt, Pascal, Leonard-Louis, Sarah, Lofaso, Frederic, Mayer, Michele, Morales, Raul Juntas, Meune, Christophe, Orlikowski, David, Ovaert, Caroline, Prigent, Hélène, Saadi, Malika, Sochala, Maximilien, Tard, Céline, Vaksmann, Guy, Walther-Louvier, Ulrike, Eymard, Bruno, Stojkovic, Tanya, Ravaud, Philippe, Duboc, Denis, and Wahbi, Karim

Published
2021
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33. Additional file 3: of A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Author

Byrne, Barry, Tarekegn Geberhiwot, Barshop, Bruce, Barohn, Richard, Derralynn Hughes, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reilley, Kristin, Jayaram, Kala, Yang, Ke, and Walsh, Liron

Abstract

Change from baseline in maximum voluntary ventilation (MVV). Mean changes from baseline to week 72 in subjects receiving 20Â mg/kg reveglucosidase alfa infusion every 2Â weeks. Baseline is defined as the last measurement prior to the first infusion. The error bars represent the standard deviations. The statistical significance of treatment effects was not determined, as no pre-planned statistical analyses were conducted for this study. (PDF 122Â kb)

Published
2017
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34. Additional file 2: of A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Author

Byrne, Barry, Tarekegn Geberhiwot, Barshop, Bruce, Barohn, Richard, Derralynn Hughes, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reilley, Kristin, Jayaram, Kala, Yang, Ke, and Walsh, Liron

Subjects
stomatognathic system, fungi, virus diseases, digestive system diseases
Abstract

Mean anti-BMN 701 (reveglucosidase alfa) antibody titers (safety population). (DOCX 16Â kb)

Published
2017
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35. Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression

Author

Vidal, Patrice, primary, Pagliarani, Serena, additional, Colella, Pasqualina, additional, Costa Verdera, Helena, additional, Jauze, Louisa, additional, Gjorgjieva, Monika, additional, Puzzo, Francesco, additional, Marmier, Solenne, additional, Collaud, Fanny, additional, Simon Sola, Marcelo, additional, Charles, Severine, additional, Lucchiari, Sabrina, additional, van Wittenberghe, Laetitia, additional, Vignaud, Alban, additional, Gjata, Bernard, additional, Richard, Isabelle, additional, Laforet, Pascal, additional, Malfatti, Edoardo, additional, Mithieux, Gilles, additional, Rajas, Fabienne, additional, Comi, Giacomo Pietro, additional, Ronzitti, Giuseppe, additional, and Mingozzi, Federico, additional

Published
2018
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36. Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies

Author

Allenbach, Yves, Drouot, Laurent, Rigolet, Aude, Charuel, Jean Luc, Jouen, Fabienne, Romero, Norma B., Maisonobe, Thierry, Dubourg, Odile, Behin, Anthony, Laforet, Pascal, Stojkovic, Tania, Eymard, Bruno, Costedoat-Chalumeau, Nathalie, Campana-Salort, Emmanuelle, Tournadre, Anne, Musset, Lucile, Bader-Meunier, Brigitte, Kone-Paut, Isabelle, Sibilia, Jean, Servais, Laurent, Fain, Olivier, Larroche, Claire, Diot, Elisabeth, Terrier, Benjamin, De Paz, Raphael, Dossier, Antoine, Menard, Dominique, Morati, Chafika, Roux, Marielle, Ferrer, Xavier, Martinet, Jeremie, Besnard, Sophie, Bellance, Remi, Cacoub, Patrice, Arnaud, Laurent, Grosbois, Bernard, Herson, Serge, Boyer, Olivier, and Benveniste, Olivier

Subjects
Adult, Male, Muscular Diseases, Humans, Original Study, Female, Hydroxymethylglutaryl CoA Reductases, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Middle Aged, Creatine Kinase, White People, Autoantibodies, Autoimmune Diseases
Abstract

Necrotizing autoimmune myopathy (NAM) is a group of acquired myopathies characterized by prominent myofiber necrosis with little or no muscle inflammation. Recently, researchers identified autoantibodies (aAb) against 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) in patients with NAM, especially in statin-exposed patients. Here we report what is to our knowledge the first European cohort of patients with NAM. The serum of 206 patients with suspicion of NAM was tested for detection of anti-HMGCR aAb using an addressable laser bead immunoassay. Forty-five patients were found to be anti-HMGCR positive. Their mean age was 48.9 ± 21.9 years and the group was predominantly female (73.3%). Statin exposure was recorded in 44.4% of patients. Almost all patients had a muscular deficit (97.7%), frequently severe (Medical Research Council [MRC] 5 ≤3 in 75.5%). Subacute onset (

Published
2014

37. Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D

Author

Fayssoil, Abdallah, primary, Ogna, Adam, additional, Chaffaut, Cendrine, additional, Chevret, Sylvie, additional, Guimarães-Costa, Raquel, additional, Leturcq, France, additional, Wahbi, Karim, additional, Prigent, Helene, additional, Lofaso, Frederic, additional, Nardi, Olivier, additional, Clair, Bernard, additional, Behin, Anthony, additional, Stojkovic, Tanya, additional, Laforet, Pascal, additional, Orlikowski, David, additional, and Annane, Djillali, additional

Published
2016
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38. Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

Author

Dogan, Celine, primary, De Antonio, Marie, additional, Hamroun, Dalil, additional, Varet, Hugo, additional, Fabbro, Marianne, additional, Rougier, Felix, additional, Amarof, Khadija, additional, Arne Bes, Marie-Christine, additional, Bedat-Millet, Anne-Laure, additional, Behin, Anthony, additional, Bellance, Remi, additional, Bouhour, Françoise, additional, Boutte, Celia, additional, Boyer, François, additional, Campana-Salort, Emmanuelle, additional, Chapon, Françoise, additional, Cintas, Pascal, additional, Desnuelle, Claude, additional, Deschamps, Romain, additional, Drouin-Garraud, Valerie, additional, Ferrer, Xavier, additional, Gervais-Bernard, Helene, additional, Ghorab, Karima, additional, Laforet, Pascal, additional, Magot, Armelle, additional, Magy, Laurent, additional, Menard, Dominique, additional, Minot, Marie-Christine, additional, Nadaj-Pakleza, Aleksandra, additional, Pellieux, Sybille, additional, Pereon, Yann, additional, Preudhomme, Marguerite, additional, Pouget, Jean, additional, Sacconi, Sabrina, additional, Sole, Guilhem, additional, Stojkovich, Tanya, additional, Tiffreau, Vincent, additional, Urtizberea, Andoni, additional, Vial, Christophe, additional, Zagnoli, Fabien, additional, Caranhac, Gilbert, additional, Bourlier, Claude, additional, Riviere, Gerard, additional, Geille, Alain, additional, Gherardi, Romain K., additional, Eymard, Bruno, additional, Puymirat, Jack, additional, Katsahian, Sandrine, additional, and Bassez, Guillaume, additional

Published
2016
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41. 0460: Right heart involvement in patients with laminopathies

Author

Wahbi, Karim, primary, Viel, Guillaume Durand, additional, Yaou, Rabah Ben, additional, Behin, Anthony, additional, Bécane, Henri-Marc, additional, Laforet, Pascal, additional, Stojkovic, Tanya, additional, Eymard, Bruno, additional, Bonne, Gisèle, additional, and Duboc, Denis, additional

Published
2016
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42. 0457: Atrial flutter in myotonic dystrophy type 1: patient characteristics and clinical outcome

Author

Wahbi, Karim, primary, Sebag, Frederic, additional, Lellouche, Nicolas, additional, Lazarus, Arnaud, additional, Bécane, Henri-Marc, additional, Bassez, Guillaume, additional, Stojkovic, Tanya, additional, Fayssoil, Abdallah, additional, Laforet, Pascal, additional, Behin, Anthony, additional, Meune, Christophe, additional, Eymard, Bruno, additional, and Duboc, Denis, additional

Published
2016
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44. Hereditary myopathy with early respiratory failure: occurrence in various populations

Author

Palmio, Johanna, Evila, Anni, Chapon, Francoise, Tasca, Giorgio, Xiang, Fengqing, Brådvik, Björn, Eymard, Bruno, Echaniz-Laguna, Andoni, Laporte, Jocelyn, Karppa, Mikko, Mahjneh, Ibrahim, Quinlivan, Rosaline, Laforet, Pascal, Damian, Maxwell, Berardo, Andres, Taratuto, Ana Lia, Bueri, Jose Antonio, Tommiska, Johanna, Raivio, Taneli, Tuerk, Matthias, Goelitz, Philipp, Chevessier, Frederic, Sewry, Caroline, Norwood, Fiona, Hedberg, Carola, Schroeder, Rolf, Edstrom, Lars, Oldfors, Anders, Hackman, Peter, Udd, Bjarne, Palmio, Johanna, Evila, Anni, Chapon, Francoise, Tasca, Giorgio, Xiang, Fengqing, Brådvik, Björn, Eymard, Bruno, Echaniz-Laguna, Andoni, Laporte, Jocelyn, Karppa, Mikko, Mahjneh, Ibrahim, Quinlivan, Rosaline, Laforet, Pascal, Damian, Maxwell, Berardo, Andres, Taratuto, Ana Lia, Bueri, Jose Antonio, Tommiska, Johanna, Raivio, Taneli, Tuerk, Matthias, Goelitz, Philipp, Chevessier, Frederic, Sewry, Caroline, Norwood, Fiona, Hedberg, Carola, Schroeder, Rolf, Edstrom, Lars, Oldfors, Anders, Hackman, Peter, and Udd, Bjarne

Abstract

Objective Several families with characteristic features of hereditary myopathy with early respiratory failure (HMERF) have remained without genetic cause. This international study was initiated to clarify epidemiology and the genetic underlying cause in these families, and to characterise the phenotype in our large cohort. Methods DNA samples of all currently known families with HMERF without molecular genetic cause were obtained from 12 families in seven different countries. Clinical, histopathological and muscle imaging data were collected and five biopsy samples made available for further immunohistochemical studies. Genotyping, exome sequencing and Sanger sequencing were used to identify and confirm sequence variations. Results All patients with clinical diagnosis of HMERF were genetically solved by five different titin mutations identified. One mutation has been reported while four are novel, all located exclusively in the FN3 119 domain (A150) of A-band titin. One of the new mutations showed semirecessive inheritance pattern with subclinical myopathy in the heterozygous parents. Typical clinical features were respiratory failure at mid-adulthood in an ambulant patient with very variable degree of muscle weakness. Cytoplasmic bodies were retrospectively observed in all muscle biopsy samples and these were reactive for myofibrillar proteins but not for titin. Conclusions We report an extensive collection of families with HMERF with five different mutations in exon 343 of TTN, which establishes this exon as the primary target for molecular diagnosis of HMERF. Our relatively large number of new families and mutations directly implies that HMERF is not extremely rare, not restricted to Northern Europe and should be considered in undetermined myogenic respiratory failure.

Published
2014

45. Fat and carbohydrate metabolism during exercise in late-onset Pompe disease

Author

Preisler, Nicolai, Laforet, Pascal, Madsen, Karen Lindhardt, Hansen, Regitze Sølling, Lukacs, Zoltan, Ørngreen, Mette Cathrine, Lacour, Arnaud, Vissing, John, Preisler, Nicolai, Laforet, Pascal, Madsen, Karen Lindhardt, Hansen, Regitze Sølling, Lukacs, Zoltan, Ørngreen, Mette Cathrine, Lacour, Arnaud, and Vissing, John

Abstract

Pompe disease is caused by absence of the lysosomal enzyme acid alpha-glucosidase. It is generally assumed that intra-lysosomal hydrolysis of glycogen does not contribute to skeletal muscle energy production during exercise. However, this hypothesis has never been tested in vivo during exercise. We examined the metabolic response to exercise in patients with late-onset Pompe disease, in order to determine if a defect in energy metabolism may play a role in the pathogenesis of Pompe disease. We studied six adult patients with Pompe disease and 10 healthy subjects. The participants underwent ischemic forearm exercise testing, and peak work capacity was determined. Fat and carbohydrate metabolism during cycle exercise was examined with a combination of indirect calorimetry and stable isotope methodology. Finally, the effects of an IV glucose infusion on heart rate, ratings of perceived exertion, and work capacity during exercise were determined. We found that peak oxidative capacity was reduced in the patients to 17.6 vs. 38.8 ml kg(-1) min(-1) in healthy subjects (p = 0.002). There were no differences in the rate of appearance and rate of oxidation of palmitate, or total fat and carbohydrate oxidation, between the patients and the healthy subjects. None of the subjects improved exercise tolerance by IV glucose infusion. In conclusion, peak oxidative capacity is reduced in Pompe disease. However, skeletal muscle fat and carbohydrate use during exercise was normal. The results indicate that a reduced exercise capacity is caused by muscle weakness and wasting, rather than by an impaired skeletal muscle glycogenolytic capacity. Thus, it appears that acid alpha-glucosidase does not play a significant role in the production of energy in skeletal muscle during exercise.

Published
2012

46. Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies

Author

Allenbach, Yves, Leroux, Gaëlle, Suárez-Calvet, Xavier, Preusse, Corinna, Gallardo, Eduard, Hervier, Baptiste, Rigolet, Aude, Hie, Miguel, Pehl, Debora, Limal, Nicolas, Hufnagl, Peter, Zerbe, Norman, Meyer, Alain, Aouizerate, Jessie, Uzunhan, Yurdagul, Maisonobe, Thierry, Goebel, Hans-Hilmar, Benveniste, Olivier, Stenzel, Werner, Hot, Arnaud, Grados, Aurélie, Schleinitz, Nicolas, Gallet, Laure, Streichenberger, Nathalie, Petiot, Philippe, Hachulla, Eric, Launay, David, Devilliers, Hervé, Hamidou, Mohamed, Cornec, Divy, Bienvenu, Boris, Langlois, Vincent, Levesque, Hervé, Delluc, Aurélien, Drouot, Laurent, Charuel, Jean-Luc, Jouen, Fabienne, Romero, Norma, Dubourg, Odile, Leonard-Louis, Sarah, Behin, Anthony, Laforet, Pascal, Stojkovic, Tania, Eymard, Bruno, Costedoat-Chalumeau, Nathalie, Campana-Salort, Emmanuelle, Tournadre, Anne, Musset, Lucile, Bader-Meunier, Brigitte, Kone-Paut, Isabelle, Sibilia, Jean, Servais, Laurent, Fain, Olivier, Larroche, Claire, Diot, Elizabeth, Terrier, Benjamin, De Paz, Raphaël, Dossier, Antoine, Menard, Dominique, Morati, Chafika, Roux, Marielle, Ferrer, Xavier, Martinet, Jeremy, Besnard, Sophie, Bellance, Rémi, Cacoub, Patrice, Saadoun, David, Arnaud, Laurent, Grosbois, Bernard, Herson, Serge, and Boyer, Olivier

Abstract

The anti-melanoma differentiation-associated gene 5 (MDA5) autoantibody is specifically associated with dermatomyositis (DM). Nevertheless, anti–MDA5+-patients experience characteristic symptoms distinct from classic DM, including severe signs of extramuscular involvement; however, the clinical signs of myopathy are mild or even absent. The morphological and immunological features are not yet described in adulthood. Data concerning the pathophysiology of anti-MDA5 DM are sparse; however, the importance of the interferon (IFN) type I pathway involved in DM has been shown. Our aim was to define morphological alterations of the skeletal muscle and the intrinsic immune response of anti–MDA5-positive DM patients. Immunohistological and RT-PCR analysis of muscle biopsy specimens from anti-MDA5 and classic DM were compared. Those with anti-MDA5 DM did not present the classic features of perifascicular fiber atrophy and major histocompatibility complex class I expression. They did not show significant signs of capillary loss; tubuloreticular formations were observed less frequently. Inflammation was focal, clustering around single vessels but significantly less intense. Expression of IFN-stimulated genes was up-regulated in anti-MDA5 DM; however, the IFN score was significantly lower. Characteristic features were observed in anti-MDA5 DM and not in classic DM patients. Only anti-MDA5 DM showed numerous nitric oxide synthase 2–positive muscle fibers with sarcoplasmic colocalization of markers of regeneration and cell stress. Anti–MDA5-positive patients demonstrate a morphological pattern distinct from classic DM.

Published
2016
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