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1. Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition

Author

Huin, Vincent, Blum, David, Delforge, Violette, Cailliau, Emeline, Djeziri, Sofia, Dujardin, Kathy, Genet, Alexandre, Viard, Romain, Attarian, Shahram, Bruneteau, Gaelle, Cassereau, Julien, Genestet, Steeve, Kaminsky, Anne-Laure, Soriani, Marie-Hélène, Lefilliatre, Mathilde, Couratier, Philippe, Pittion-Vouyovitch, Sophie, Esselin, Florence, De La Cruz, Elisa, Guy, Nathalie, Kolev, Ivan, Corcia, Philippe, Cintas, Pascal, Desnuelle, Claude, Buée, Luc, Danel-Brunaud, Véronique, Devos, David, and Rolland, Anne-Sophie

Published
2024
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2. 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

6. Reply to the letter from Gazulla

Author

Corcia, Philippe, primary, Lunetta, Christian, additional, Couratier, Philippe, additional, Vourc'h, Patrick, additional, Gromicho, Marta, additional, Desnuelle, Claude, additional, Soriani, Marie‐Hélène, additional, Pinto, Susana, additional, and de Carvalho, Mamede, additional

Published
2021
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8. A phase III trial of tirasemtiv as a potential treatment for amyotrophic lateral sclerosis

Author

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

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

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

Published
2019

9. 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

11. A phase II−III trial of olesoxime in subjects with amyotrophic lateral sclerosis

Author

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

Published
2014
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12. DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Author

Ferreboeuf, Maxime, Mariot, Virginie, Bessières, Bettina, Vasiljevic, Alexandre, Attié-Bitach, Tania, Collardeau, Sophie, Morere, Julia, Roche, Stéphane, Magdinier, Frédérique, Robin-Ducellier, Jérôme, Rameau, Philippe, Whalen, Sandra, Desnuelle, Claude, Sacconi, Sabrina, Mouly, Vincent, Butler-Browne, Gillian, and Dumonceaux, Julie

Published
2014
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13. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Author

Broucqsault, Natacha, Morere, Julia, Gaillard, Marie-Cécile, Dumonceaux, Julie, Torrents, Julia, Salort-Campana, Emmanuelle, Maues De Paula, André, Bartoli, Marc, Fernandez, Carla, Chesnais, Anne Laure, Ferreboeuf, Maxime, Sarda, Laure, Dufour, Henry, Desnuelle, Claude, Attarian, Shahram, Levy, Nicolas, Nguyen, Karine, Magdinier, Frédérique, and Roche, Stéphane

Published
2013
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17. Implanted Phrenic Stimulation Impairs Local Diaphragm Myofiber Reinnervation in Amyotrophic Lateral Sclerosis

Author

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

Published
2019
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19. A functionally dominant mitochondrial DNA mutation

Author

Sacconi, Sabrina, Salviati, Leonardo, Nishigaki, Yutaka, Walker, Winsome F., Hernandez-Rosa, Evelyn, Trevisson, Eva, Delplace, Severine, Desnuelle, Claude, Shanske, Sara, Hirano, Michio, Schon, Eric A., Bonilla, Eduardo, De Vivo, Darryl C., DiMauro, Salvatore, and Davidson, Mercy M.

Published
2008

22. Brain computer interface with P300-Speller: usability for disabled patients with Amyotrophic Lateral Sclerosis

Author

Guy, Violaine, Soriani, M. H., Bruno, Mariane, Papadopoulo, Théodore, Desnuelle, Claude, Clerc, Maureen, Centre de Référence Maladies Neuromusculaires et SLA, hôpital Archet 1, COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Computational Imaging of the Central Nervous System (ATHENA), Inria Sophia Antipolis - Méditerranée (CRISAM), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), and Clerc, Maureen

Subjects
[SDV] Life Sciences [q-bio], AAC system, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SDV]Life Sciences [q-bio], [SDV.NEU.PC] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, P300 Speller, BCI, ALS
Abstract

International audience; ObjectivesAmyotrophic Lateral Sclerosis (ALS), a progressive neurodegenerative disease, restricts patients’ communication capacity a few years after onset. Promising proof-of-concept of Brain-Computer Interface (BCI) has already been demonstrated in ALS and locked-in patients, mostly in pre-clinical studies or only on few patients, but performance was estimated not yet high enough to support adoption by people with physical limitation of speech. Here, a visual BCI device is evaluated in a clinical study to test if disabled patients with multiple deficiencies related to ALS would be able to use BCI to communicate in a daily environment. MethodsAfter clinical evaluation of physical, cognitive and language capacities, 20 patients with ALS were included. The BCI P300 speller system consisted of an EEG acquisition connected to real-time processing software, and separate keyboard display control software. It was equipped with original features such as optimal stopping of flashes and word prediction.The study consisted of two 3-block sessions (copy spelling, free spelling and free use) using the system in several modes of operation in view of evaluating its usability through its effectiveness, efficiency and satisfaction. ResultsEffectiveness is evidenced as 100% of participants successfully achieved all spelling tasks. Efficiency is supported considering over 95% of correct symbols were selected by 65% of participants. The average number of correct symbols/min ranged from 3.6 (without word prediction) to 5.04 (with word prediction). Participants expressed satisfaction with an average score of 8.7/10 on a Visual Analog Scale assessing comfort, ease of use and utility. Patients quickly learned how to operate this system which did not require much learning effort. ConclusionWord prediction and optimal stopping of flashes improve information transfer rate and make BCI competitive with alternative communication systems such as eye trackers. Remaining requirements to improve the device for a suitable ergonomic use are currently in progress.

Published
2017

23. 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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24. 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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25. The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.

Author

Pradat, Pierre-François, Bernard, Emilien, Corcia, Philippe, Couratier, Philippe, Jublanc, Christel, Querin, Giorgia, Morélot Panzini, Capucine, Salachas, François, Vial, Christophe, Wahbi, Karim, Bede, Peter, Desnuelle, Claude, on behalf of the French Kennedy's Disease Writing Group, Le Forestier, Nadine, Echaniz-Laguna, Andoni, Sorarù, Gianni, Perez, Thierry, Ramos, Cédric, Goizet, Cyril, and Desport, Jean Claude

Subjects
MEDICAL personnel, ASPIRATION pneumonia, SPINAL muscular atrophy, BRUGADA syndrome, MOTOR neuron diseases, NEUROMUSCULAR diseases, ANDROGEN receptors, ADRENERGIC receptors
Abstract

Background: Kennedy's disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The objective of the French national diagnostic and management protocol is to provide evidence-based best practice recommendations and outline an optimised care pathway for patients with KD, based on a systematic literature review and consensus multidisciplinary observations.Results: The initial evaluation, confirmation of the diagnosis, and management should ideally take place in a tertiary referral centre for motor neuron diseases, and involve an experienced multidisciplinary team of neurologists, endocrinologists, cardiologists and allied healthcare professionals. The diagnosis should be suspected in an adult male presenting with slowly progressive lower motor neuron symptoms, typically affecting the lower limbs at onset. Bulbar involvement (dysarthria and dysphagia) is often a later manifestation of the disease. Gynecomastia is not a constant feature, but is suggestive of a suspected diagnosis, which is further supported by electromyography showing diffuse motor neuron involvement often with asymptomatic sensory changes. A suspected diagnosis is confirmed by genetic testing. The multidisciplinary assessment should ascertain extra-neurological involvement such as cardiac repolarisation abnormalities (Brugada syndrome), signs of androgen resistance, genitourinary abnormalities, endocrine and metabolic changes (glucose intolerance, hyperlipidemia). In the absence of effective disease modifying therapies, the mainstay of management is symptomatic support using rehabilitation strategies (physiotherapy and speech therapy). Nutritional evaluation by an expert dietician is essential, and enteral nutrition (gastrostomy) may be required. Respiratory management centres on the detection and treatment of bronchial obstructions, as well as screening for aspiration pneumonia (chest physiotherapy, drainage, positioning, breath stacking, mechanical insufflation-exsufflation, cough assist machnie, antibiotics). Non-invasive mechanical ventilation is seldom needed. Symptomatic pharmaceutical therapy includes pain management, endocrine and metabolic interventions. There is no evidence for androgen substitution therapy.Conclusion: The French national Kennedy's disease protocol provides management recommendations for patients with KD. In a low-incidence condition, sharing and integrating regional expertise, multidisciplinary experience and defining consensus best-practice recommendations is particularly important. Well-coordinated collaborative efforts will ultimately pave the way to the development of evidence-based international guidelines. [ABSTRACT FROM AUTHOR]

Published
2020
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27. Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study

Author

Hachulla, Eric, primary, Le Masson, Gwendal, additional, Solé, Guilhem, additional, Hamidou, Mohamed, additional, Desnuelle, Claude, additional, Azulay, Jean-Philippe, additional, Besson, Gérard, additional, Swiader, Laure, additional, Abad, Sébastien, additional, Antoine, Jean-Christophe, additional, Bouhour, Françoise, additional, Créange, Alain, additional, Grenouillet, Marike, additional, Magy, Laurent, additional, Marcel, Sébastien, additional, Paquet, Jean-Michel, additional, Rouhart, François, additional, Ziegler, François, additional, Mathis, Stéphane, additional, Gauthier-Darnis, Marc, additional, and Puget, Sophie, additional

Published
2018
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28. A phase I/II clinical trial of autologous myoblast transplantation in facioscapulohumeral muscular dystrophy

Author

Sacconi, Sabrina, Vilquin, Jean-Thomas, Colson, Serge, Bocquet, Jonathan, Darcourt, Jacques, Garcia, Jérémy, Tanant, Véronique, Salort-Campana, Emmanuelle, Carlier, Pierre, Marolleau, Jean-Pierre, Skuk, Daniel, Larghero, Jérome, Desnuelle, Claude, Vilquin, Jean-Thomas, COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Sorbonne Université (SU), Cognition, Action, et Plasticité Sensorimotrice [Dijon - U1093] (CAPS), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM), Transporteurs et Imagerie, Radiothérapie en Oncologie et Mécanismes biologiques des Altérations du Tissu Osseux (TIRO-MATOs - UMR E4320), Service Hospitalier Frédéric Joliot (SHFJ), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-UMR E4320 (TIRO-MATOs), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Côte d'Azur (UCA), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), NMR Laboratory, Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service clinique des Maladies du Sang, CHU Amiens-Picardie, Axe Neurosciences [CHU Québec], Centre Hospitalier Université Laval [Quebec] (CHUL), CHU de Québec–Université Laval, Université Laval [Québec] (ULaval)-Université Laval [Québec] (ULaval)-CHU de Québec–Université Laval, Université Laval [Québec] (ULaval)-Université Laval [Québec] (ULaval)-Centre de recherche du CHU de Québec-Université Laval (CRCHUQ), Université Laval [Québec] (ULaval)-Université Laval [Québec] (ULaval), Hematopoïèse et Cellules Souches (U362), Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence Maladies Neuromusculaires et SLA, hôpital Archet 1, UMR E4320 (TIRO-MATOs), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Côte d'Azur (UCA)-Service Hospitalier Frédéric Joliot (SHFJ), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay

Subjects
[SDV.MHEP.CHI] Life Sciences [q-bio]/Human health and pathology/Surgery, [SDV.MHEP.CHI]Life Sciences [q-bio]/Human health and pathology/Surgery
Abstract

International audience; Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is one of the most frequent adult myopathies (1/20.000), with selective involvement of specific groups of muscles : facial, scapular fixator, anterior foreleg muscles, abdominal and humeral muscles. Vastus lateralis (VL) is usually spared clinically until late stages of the disease, and myoblasts grown from VL have similar behaviour in vivo and in vitro than myoblasts from control patients-> Proposal:Transplantation of autologous myoblast from spared muscle (VL) into an affected muscle as the Tibialis anterior (TA) muscle could locally improve the muscle’s regenerative capacities. Results and discussion: Cell productions were feasible but the quality of the initial muscle biopsy is important. Cell administrations were feasible and clinically well tolerated by all patients but one. The control of local cell distribution may be improved by echographic monitoring. Results show slight increases in twitch response and slight decrease in fatigue in the 3rd group. The combination of cell type (myoblasts) and of the modality (dense multisite injections) may have positively affected the TA muscle, BUT: No clinically significant gain of function perceived by FSHD patients, and no significant changes were noted at MRI and PET-Scan.The local FSHD1 degenerated muscle environment may be detrimental to the stability of the fibers or of the niches, and muscle regeneration may have been inefficient, too transitory, aborted or too unstable.The slight muscle strength increase may not be clinically significant for FSHD patients, but may improve the quality of life of patients with more advanced muscle loss (e.g. DMD patients) in other indications.

Published
2016

29. 208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014

Author

Schoser, Benedikt, Laforêt, Pascal, Kruijshaar, Michelle E., Toscano, Antonio, van Doorn, Pieter A., van der Ploeg, Ans T., Angelini, Corrado, van der Beek, Nadine A. M. E., Van den Bergh, Peter, Broomfield, Alexander, Desnuelle, Claude, Hahn, Andreas, Lachmann, Robin, Mengel, Eugen, Mongini, Tiziana Enrica, Müller Felber, Wolfgang, Padberg, George, Parenti, Giancarlo, Pascual, Ignacio Pascual, Pijnappel, W. W. M. Pim, Roberts, Mark, Talim, Beril, Treur, Wilma, Vissing, John, Pediatrics, and Neurology

Subjects
medicine.medical_specialty, Pediatrics, Treatment outcome, Information Dissemination, MEDLINE, Neurology (clinical), Pediatrics, Perinatology and Child Health, Genetics (clinical), Neurology, Disease, Glycogen storage disease type II, medicine, Humans, Enzyme Replacement Therapy, Intensive care medicine, Netherlands, business.industry, Glycogen Storage Disease Type II, Enzyme replacement therapy, Perinatology and Child Health, medicine.disease, Data sharing, Treatment Outcome, Practice Guidelines as Topic, business
Published
2015

30. Verbal Communication through Brain Computer Interfaces

Author

Clerc, Maureen, Mattout, Jérémie, Maby, Emmanuel, Devlaminck, Dieter, Papadopoulo, Théodore, Guy, Violaine, Desnuelle, Claude, Computational Imaging of the Central Nervous System (ATHENA), Inria Sophia Antipolis - Méditerranée (CRISAM), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Référence Maladies Neuromusculaires et SLA, hôpital Archet 1, Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Institut de Biologie Valrose (IBV), grant from Association pour la Recherche sur la Sclérose Latérale Amyotrophique, Frédéric Bimbot, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Nice Sophia Antipolis (1965 - 2019) (UNS), and Clerc, Maureen

Subjects
[INFO.INFO-OH] Computer Science [cs]/Other [cs.OH], [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], P300 speller, [SDV.OT] Life Sciences [q-bio]/Other [q-bio.OT], assistive technology, [INFO.INFO-OH]Computer Science [cs]/Other [cs.OH], virtual keyboard, brain computer interfaces
Abstract

International audience; Brain Computer Interfaces (BCI) provide a way of communicating directly from brain activity, bypassing muscular control. We report some recent advances in a BCI communication system called the P300 speller, which is a virtual brain-operated keyboard. This system relies on electroencephalographic activity time-locked to the flashing of the desired letters. It requires calibration of the system, but very little training from the user. Clinical tests are being conducted on a target population of patients suffering from Amyotrophic Lateral Sclerosis, in order to confirm the usability of the P300 speller for reliable communication.

Published
2013

31. 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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33. Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Author

Salort-Campana, Emmanuelle, primary, Nguyen, Karine, additional, Bernard, Rafaelle, additional, Jouve, Elisabeth, additional, Solé, Guilhem, additional, Nadaj-Pakleza, Aleksandra, additional, Niederhauser, Julien, additional, Charles, Estelle, additional, Ollagnon, Elisabeth, additional, Bouhour, Françoise, additional, Sacconi, Sabrina, additional, Echaniz-Laguna, Andoni, additional, Desnuelle, Claude, additional, Tranchant, Christine, additional, Vial, Christophe, additional, Magdinier, Frederique, additional, Bartoli, Marc, additional, Arne-Bes, Marie-Christine, additional, Ferrer, Xavier, additional, Kuntzer, Thierry, additional, Levy, Nicolas, additional, Pouget, Jean, additional, and Attarian, Shahram, additional

Published
2015
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34. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

Author

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., Doorn, P. A., Van den Bergh, P. Y. K., Vissing, J., Schoser, B., Bembi, Bruno, Broomfield, Alexander, Boentert, Matthias, Desnuelle, Claude, Findling, Oliver, and Hahn, Andreas

Subjects
GLYCOGEN storage disease type II, QUALITY of life, ENZYMES, DRUG efficacy, PATIENTS, DIAGNOSIS
Abstract

Background and purpose Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy ( ERT) has been available since 2006. Uniform criteria for starting and stopping ERT in adult patients were developed and reported here. Methods Three consensus meetings were organized through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease. A systematic review of the literature was undertaken to determine the effectiveness of ERT in adult patients on a range of clinical outcome measures and quality of life. A narrative synthesis is presented. Results Consensus was reached on how the diagnosis of Pompe disease should be confirmed, when treatment should be started, reasons for stopping treatment and the use of ERT during pregnancy. This was based on expert opinion and supported by the literature. One clinical trial and 43 observational studies, covering a total of 586 individual adult patients, provided evidence of a beneficial effect of ERT at group level. At individual patient level, the response to treatment varied, but factors associated with a patient's response to ERT were not described in many studies. Eleven observational studies focused on more severely affected patients, suggesting that ERT can also be beneficial in these patients. There are no studies on the effects of ERT in pre-symptomatic patients. Conclusions This is the first European consensus recommendation for starting and stopping ERT in adult patients with Pompe disease, based on the extensive experience of experts from different countries. [ABSTRACT FROM AUTHOR]

Published
2017
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35. The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

Author

Sacconi, Sabrina, primary, Lemmers, Richard J.L.F., additional, Balog, Judit, additional, van der Vliet, Patrick J., additional, Lahaut, Pauline, additional, van Nieuwenhuizen, Merlijn P., additional, Straasheijm, Kirsten R., additional, Debipersad, Rashmie D., additional, Vos-Versteeg, Marianne, additional, Salviati, Leonardo, additional, Casarin, Alberto, additional, Pegoraro, Elena, additional, Tawil, Rabi, additional, Bakker, Egbert, additional, Tapscott, Stephen J., additional, Desnuelle, Claude, additional, and van der Maarel, Silvère M., additional

Published
2013
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36. DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Author

Ferreboeuf, Maxime, primary, Mariot, Virginie, additional, Bessières, Bettina, additional, Vasiljevic, Alexandre, additional, Attié-Bitach, Tania, additional, Collardeau, Sophie, additional, Morere, Julia, additional, Roche, Stéphane, additional, Magdinier, Frédérique, additional, Robin-Ducellier, Jérôme, additional, Rameau, Philippe, additional, Whalen, Sandra, additional, Desnuelle, Claude, additional, Sacconi, Sabrina, additional, Mouly, Vincent, additional, Butler-Browne, Gillian, additional, and Dumonceaux, Julie, additional

Published
2013
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37. Reply to the letter from Gazulla et al.

Author

Corcia, Philippe, Lunetta, Christian, Couratier, Philippe, Vourc'h, Patrick, Gromicho, Marta, Desnuelle, Claude, Soriani, Marie‐Hélène, Pinto, Susana, and de Carvalho, Mamede

Subjects
AMYOTROPHIC lateral sclerosis, FRONTOTEMPORAL lobar degeneration, MOTOR neuron diseases, FAMILIAL spastic paraplegia, SPINAL muscular atrophy, CENTRAL nervous system
Abstract

However, we completely agree with Dr Gazulla et al.'s assumption that PLS, like ALS, is not a pure motor neurone disease but rather a multisystem neurodegenerative disease defined by a predominant motor system injury. Moreover, Bede's team has demonstrated the existence of cerebellar atrophy in sporadic ALS and in ALS linked to I C9orf72 i abnormal G4C2 expansion [5,6]. We read with great interest the letter of Drs Gazulla and collaborators, who suggested that the continuum between primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS) is not straightforward [1]. [Extracted from the article]

Published
2022
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41. Isolation of a Highly Myogenic CD34-Negative Subset of Human Skeletal Muscle Cells Free of Adipogenic Potential

Author

Pisani, Didier F., primary, Dechesne, Claude A., additional, Sacconi, Sabrina, additional, Delplace, Severine, additional, Belmonte, Nathalie, additional, Cochet, Olivia, additional, Clement, Noémie, additional, Wdziekonski, Brigitte, additional, Villageois, Albert P., additional, Butori, Catherine, additional, Bagnis, Claude, additional, Di Santo, James P., additional, Kurzenne, Jean-Yves, additional, Desnuelle, Claude, additional, and Dani, Christian, additional

Published
2010
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43. Erratum: Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

Author

Naïmi, Mourad, primary, Bannwarth, Sylvie, additional, Procaccio, Vincent, additional, Pouget, Jean, additional, Desnuelle, Claude, additional, Pellissier, Jean-François, additional, Rötig, Agnes, additional, Munnich, Arnold, additional, Calvas, Patrick, additional, Richelme, Christian, additional, Jonveaux, Philippe, additional, Castelnovo, Giovanni, additional, Simon, Mariella, additional, Clanet, Michel, additional, Wallace, Douglas, additional, and Paquis-Flucklinger, Véronique, additional

Published
2007
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44. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

Author

Naïmi, Mourad, primary, Bannwarth, Sylvie, additional, Procaccio, Vincent, additional, Pouget, Jean, additional, Desnuelle, Claude, additional, Pellissier, Jean-François, additional, Rötig, Agnes, additional, Munnich, Arnold, additional, Calvas, Patrick, additional, Richelme, Christian, additional, Jonveaux, Philippe, additional, Castelnovo, Giovanni, additional, Simon, Melvin, additional, Clanet, Michel, additional, Wallace, Douglas, additional, and Paquis-Flucklinger, Véronique, additional

Published
2006
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46. Mutations in the Muscle Sodium Channel Gene (SCN4A) in 13 French Families with Hyperkalemic Periodic Paralysis and Paramyotonia Congenita: Phenotype to Genotype Correlations and Demonstration of the Predominance of Two Mutations

Author

Plassart, Emmanuelle, primary, Reboul, Jocelyne, additional, Rime, Claire-Sophie, additional, Recan, Dominique, additional, Millasseau, Philippe, additional, Eymard, Bruno, additional, Pelletier, Jean, additional, Thomas, Charles, additional, Chapon, Françoise, additional, Desnuelle, Claude, additional, Confavreux, Christian, additional, Bady, Bernadette, additional, Martin, Jean-Jacques, additional, Lenoir, Gilbert, additional, Serratrice, Georges, additional, Fardeau, Michel, additional, and Fontaine, Bertrand, additional

Published
1994
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47. The D4Z4 Macrosatellite Repeat Acts as a CTCF and AType Lamins-Dependent Insulator in Facio-Scapulo- Humeral Dystrophy.

Author

Ottaviani, Alexandre, Rival-Gervier, Sylvie, Boussouar, Amina, Foerster, Andrea M., Rondier, Delphine, Sacconi, Sabrina, Desnuelle, Claude, Gilson, Eric, and Magdinier, Frédérique

Subjects
DYSTROPHY, HUMAN genome, MYOBLASTS, CELLS, PATIENTS
Abstract

Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this rearrangement remains enigmatic, but deletion of this 3.3-kb macrosatellite element might affect the expression of the FSHD-associated gene(s) through position effect mechanisms. We investigated this hypothesis by creating a large collection of constructs carrying 1 to >11 D4Z4 repeats integrated into the human genome, either at random sites or proximal to a telomere, mimicking thereby the organization of the 4q35 locus. We show that D4Z4 acts as an insulator that interferes with enhancer-promoter communication and protects transgenes from position effect. This last property depends on both CTCF and A-type Lamins. We further demonstrate that both anti-silencing activity of D4Z4 and CTCF binding are lost upon multimerization of the repeat in cells from FSHD patients compared to control myoblasts from healthy individuals, suggesting that FSHD corresponds to a gain-of-function of CTCF at the residual D4Z4 repeats. We propose that contraction of the D4Z4 array contributes to FSHD physio-pathology by acting as a CTCF-dependent insulator in patients. [ABSTRACT FROM AUTHOR]

Published
2009
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48. Dihydropyridine‐sensitive Ca2+channel in aneurally cultured human muscles Relationship between high‐affinity binding site and inhibition of calcium uptake

Author

Desnuelle, Claude, Askanas, Valerie, and Engel, W.King

Abstract

Dihydropyridine‐sensitive Ca2+channels and the relationship between binding of dihydropyridine derivatives and depolarization‐induced Ca2+uptake have been studied in aneurally cultured human muscle. Analysis of the equilibrium binding of the 1,4‐dihydropyridine derivative (+)‐PN200‐110 revealed a single high‐affinity binding site with a Kdof 0.15±0.05 nM and a Bmaxof 87±12 fmol/mg protein. Inhibition of (+)‐[3H]PN200‐110 binding by nitrendipine revealed a Kiof 0.8 nM for the nitrendipine‐receptor complex. Depolarization of cultured human muscle achieved by elevating the K+concentration increased the uptake 45Ca2+which was inhibited by nitrendipine with an IC50of 1.1 nM. This study demonstrates that aneurally cultured human muscle has dihydropyridine‐sensitive voltage‐dependent Ca2+channels which are functional when the fibers are depolarized.

Published
1988
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