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2. International retrospective natural history study of LMNA-related congenital muscular dystrophy

Author

Yaou, Rabah Ben, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D’Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Francesco, Muntoni F, Pierson, Tyler M, Gómez-Andrés, David, Foley, A Reghan, Quijano-Roy, Susana, Bönnemann, Carsten G, and Bonne, Gisèle

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Genetics, Cardiovascular, Clinical Research, Pediatric, Muscular Dystrophy, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Musculoskeletal, laminopathies, striated muscle, LMNA, early onset, muscular dystrophy, Clinical sciences, Neurosciences, Biological psychology
Abstract

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.

Published
2021

3. International retrospective natural history study of LMNA-related congenital muscular dystrophy.

Author

Ben Yaou, Rabah, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D'Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Reghan Foley, A, Quijano-Roy, Susana, Bönnemann, Carsten G, and Bonne, Gisèle

Subjects
LMNA, early onset, laminopathies, muscular dystrophy, striated muscle
Abstract

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.

Published
2021

4. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

Author

Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, and Romero, Norma B.

Published
2022
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5. Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James AL, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny PA, Gilhuis, H Jacobus, Hadden, Robert DM, Holt, James KL, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel PJ, Straathof, Chiara SM, Gorson, Kenneth C, and Jacobs, Bart C

Published
2021
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6. CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

Author

Al-Hakem, Helle, Doets, Alex Y, Stino, Amro Maher, Zivkovic, Sasha A, Andersen, Henning, Willison, Hugh J, Cornblath, David R, Gorson, Kenneth C, Islam, Zhahirul, Mohammad, Quazi Deen, Sindrup, Søren Hein, Kusunoki, Susumu, Davidson, Amy, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Arends, Samuel, Luijten, Linda W G, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Pereon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Martín-Aguilar, Lorena, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Waheed, Waqar, Lehmann, Helmar C, Granit, Volkan, Stein, Beth, Samijn, Johnny P A, van Dijk, Gert W, Jacobs, Bart C, Neurology, Medical Microbiology & Infectious Diseases, Public Health, and Immunology

Subjects
Neurology (clinical)
Abstract

BACKGROUND AND OBJECTIVES: To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome Study. METHODS: Albuminocytologic dissociation (ACD) was defined as an increased protein level (>0.45 g/L) in the absence of elevated white cell count (4 days 84%. High CSF protein levels were associated with a demyelinating subtype, proximal or global muscle weakness, and a reduced likelihood of being able to run at week 2 (odds ratio [OR] 0.42, 95% CI 0.25-0.70; p = 0.001) and week 4 (OR 0.44, 95% CI 0.27-0.72; p = 0.001). Patients with the Miller Fisher syndrome, distal predominant weakness, and normal or equivocal nerve conduction studies were more likely to have lower CSF protein levels. CSF cell count was

Published
2023

9. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

Author

Abath Neto, Osorio, Moreno, Cristiane de Araújo Martins, Malfatti, Edoardo, Donkervoort, Sandra, Böhm, Johann, Guimarães, Júlio Brandão, Foley, A. Reghan, Mohassel, Payam, Dastgir, Jahannaz, Bharucha-Goebel, Diana Xerxes, Monges, Soledad, Lubieniecki, Fabiana, Collins, James, Medne, Līvija, Santi, Mariarita, Yum, Sabrina, Banwell, Brenda, Salort-Campana, Emmanuelle, Rendu, John, Fauré, Julien, Yis, Uluc, Eymard, Bruno, Cheraud, Chrystel, Schneider, Raphaël, Thompson, Julie, Lornage, Xaviere, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean-François, Reed, Umbertina Conti, Oliveira, Acary Souza Bulle, Biancalana, Valérie, Romero, Norma B., Bönnemann, Carsten G., Laporte, Jocelyn, and Zanoteli, Edmar

Published
2017
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10. A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

Author

Mohassel, Payam, primary, Yun, Pomi, additional, Syeda, Safoora, additional, Batra, Abhinandan, additional, Bradley, Andrew J., additional, Donkervoort, Sandra, additional, Monges, Soledad, additional, Cohen, Julie S., additional, Leung, Doris G., additional, Munell, Francina, additional, Ortez, Carlos, additional, Sánchez‐Montáñez, Angel, additional, Karachunski, Peter, additional, Brandsema, John, additional, Medne, Livija, additional, Chaudhry, Vinay, additional, Tasca, Giorgio, additional, Foley, A. Reghan, additional, Udd, Bjarne, additional, Arai, Andrew E., additional, Walter, Glenn A., additional, and Bönnemann, Carsten G., additional

Published
2023
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12. Cerebrospinal Fluid Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

Author

Al-Hakem, Helle, primary, Doets, Alex Y, additional, Stino, Amro Maher, additional, Zivkovic, Sasha A., additional, Andersen, Henning, additional, Willison, Hugh J, additional, Cornblath, David R, additional, Gorson, Kenneth C, additional, Islam, Zhahirul, additional, Mohammad, Quazi Deen, additional, Sindrup, Søren Hein, additional, Kusunoki, Susumu, additional, Davidson, Amy, additional, Casasnovas, Carlos, additional, Bateman, Kathleen, additional, Miller, James AL, additional, van den Berg, Bianca, additional, Verboon, Christine, additional, Roodbol, Joyce, additional, Leonhard, Sonja E, additional, Arends, Samuel, additional, Luijten, Linda W G, additional, Benedetti, Luana, additional, Kuwabara, Satoshi, additional, Van den Bergh, Peter, additional, Monges, Soledad, additional, Marfia, Girolama A, additional, Shahrizaila, Nortina, additional, Galassi, Giuliana, additional, Pereon, Yann, additional, Bürmann, Jan, additional, Kuitwaard, Krista, additional, Kleyweg, Ruud P, additional, Marchesoni, Cintia, additional, Sedano Tous, María J, additional, Querol, Luis, additional, Martín-Aguilar, Lorena, additional, Wang, Yuzhong, additional, Nobile-Orazio, Eduardo, additional, Rinaldi, Simon, additional, Schenone, Angelo, additional, Pardo, Julio, additional, Vermeij, Frederique H, additional, Waheed, Waqar, additional, Lehmann, Helmar C, additional, Granit, Volkan, additional, Stein, Beth, additional, Cavaletti, Guido, additional, Gutiérrez-Gutiérrez, Gerardo, additional, Barroso, Fabio A, additional, Visser, Leo H, additional, Katzberg, Hans D, additional, Dardiotis, Efthimios, additional, Attarian, Shahram, additional, van der Kooi, Anneke J, additional, Eftimov, Filip, additional, Wirtz, Paul W, additional, PA Samijn, Johnny, additional, Gilhuis, H Jacobus, additional, DM Hadden, Robert, additional, Holt, James KL, additional, Sheikh, Kazim A, additional, Kolb, Noah, additional, Karafiath, Summer, additional, Vytopil, Michal, additional, Antonini, Giovanni, additional, Feasby, Thomas E, additional, Faber, Catharina, additional, Kramers, Hans, additional, Busby, Mark, additional, Roberts, Rhys C, additional, Silvestri, Nicholas J, additional, Fazio, Raffaella, additional, van Dijk, Gert W, additional, Garssen, Marcel PJ, additional, Verschuuren, Jan, additional, Harbo, Thomas, additional, and Jacobs, Bart C, additional

Published
2023
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13. Current treatment practice of Guillain-Barré syndrome

Author

Verboon, Christine, Doets, Alex Y., Galassi, Giuliana, Davidson, Amy, Waheed, Waqar, Péréon, Yann, Shahrizaila, Nortina, Kusunoki, Susumu, Lehmann, Helmar C., Harbo, Thomas, Monges, Soledad, Van den Bergh, Peter, Willison, Hugh J., Cornblath, David R., and Jacobs, Bart C.

Published
2019
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15. Consenso argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe

Author

Dubrovsky, Alberto, Fulgenzi, Ernesto, Amartino, Hernán, Carlés, Daniel, Corderi, José, de Vito, Eduardo, Fainboim, Alejandro, Ferradás, Nélida, Guelbert, Norberto, Lubieniecki, Fabiana, Mazia, Claudio, Mesa, Lilia, Monges, Soledad, Pesquero, Joao, Reisin, Ricardo, Rugiero, Marcelo, Schenone, Andrea, Szlago, Marina, Taratuto, Ana Lia, and Zgaga, Marisa

Published
2014
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18. An International Perspective on Preceding Infections in Guillain-Barre Syndrome The IGOS-1000 Cohort

Author

Leonhard, Sonja E., van der Eijk, Annemiek A., Andersen, Henning, Antonini, Giovanni, Arends, Samuel, Attarian, Shahram, Barroso, Fabio A., Bateman, Kathleen J., Batstra, Manou R., Benedetti, Luana, van den Berg, Bianca, Van den Bergh, Peter, Burmann, Jan, Busby, Mark, Casasnovas, Carlos, Cornblath, David R., Davidson, Amy, Doets, Alex Y., van Doorn, Pieter A., de la Cour, Charlotte Dornonville, Feasby, Thomas E., Fehmi, Janev, Garcia-Sobrino, Tania, Goldstein, Jonathan M., Gorson, Kenneth C., Granit, Volkan, Hadden, Robert D. M., Harbo, Thomas, Hartung, Hans-Peter, Hasan, Imran, Holbech, Jakob, V, Holt, James K. L., Jahan, Israt, Islam, Zhahirul, Karafiath, Summer, Katzberg, Hans D., Kleyweg, Ruud P., Kolb, Noah, Kuitwaard, Krista, Kuwahara, Motoi, Kusunoki, Susumu, Luijten, Linda W. G., Kuwabara, Satoshi, Pan, Edward Lee, Lehmann, Helmar C., Maas, Marijke, Martin-Aguilar, Lorena, Al Miller, James, Mohammad, Quazi Deen, Monges, Soledad, Nedkova-Hristova, Velina, Nobile-Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Querol, Luis, Reisin, Ricardo, Van Rijs, Wouter, Rinaldi, Simon, Roberts, Rhys C., Roodbol, Joyce, Shahrizaila, Nortina, Sindrup, Soren Hein, Stein, Beth, Cheng-Yin, Tan, Tankisi, Hatice, Tio-Gillen, Anne P., Tous, Maria J. Sedano, Verboon, Christine, Vermeij, Frederique H., Visser, Leo H., Huizinga, Ruth, Willison, Hugh J., Jacobs, Bart C., Leonhard, Sonja E., van der Eijk, Annemiek A., Andersen, Henning, Antonini, Giovanni, Arends, Samuel, Attarian, Shahram, Barroso, Fabio A., Bateman, Kathleen J., Batstra, Manou R., Benedetti, Luana, van den Berg, Bianca, Van den Bergh, Peter, Burmann, Jan, Busby, Mark, Casasnovas, Carlos, Cornblath, David R., Davidson, Amy, Doets, Alex Y., van Doorn, Pieter A., de la Cour, Charlotte Dornonville, Feasby, Thomas E., Fehmi, Janev, Garcia-Sobrino, Tania, Goldstein, Jonathan M., Gorson, Kenneth C., Granit, Volkan, Hadden, Robert D. M., Harbo, Thomas, Hartung, Hans-Peter, Hasan, Imran, Holbech, Jakob, V, Holt, James K. L., Jahan, Israt, Islam, Zhahirul, Karafiath, Summer, Katzberg, Hans D., Kleyweg, Ruud P., Kolb, Noah, Kuitwaard, Krista, Kuwahara, Motoi, Kusunoki, Susumu, Luijten, Linda W. G., Kuwabara, Satoshi, Pan, Edward Lee, Lehmann, Helmar C., Maas, Marijke, Martin-Aguilar, Lorena, Al Miller, James, Mohammad, Quazi Deen, Monges, Soledad, Nedkova-Hristova, Velina, Nobile-Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Querol, Luis, Reisin, Ricardo, Van Rijs, Wouter, Rinaldi, Simon, Roberts, Rhys C., Roodbol, Joyce, Shahrizaila, Nortina, Sindrup, Soren Hein, Stein, Beth, Cheng-Yin, Tan, Tankisi, Hatice, Tio-Gillen, Anne P., Tous, Maria J. Sedano, Verboon, Christine, Vermeij, Frederique H., Visser, Leo H., Huizinga, Ruth, Willison, Hugh J., and Jacobs, Bart C.

Abstract

Background and Objectives Infections play a key role in the development of Guillain-Barre syndrome (GBS) and have been associated with specific clinical features and disease severity. The clinical variation of GBS across geographical regions has been suggested to be related to differences in the distribution of preceding infections, but this has not been studied on a large scale. Methods We analyzed the first 1,000 patients included in the International GBS Outcome Study with available biosamples (n = 768) for the presence of a recent infection with Campylobacter jejuni, hepatitis E virus, Mycoplasma pneumoniae, cytomegalovirus, and Epstein-Barr virus. Results Serologic evidence of a recent infection with C. jejuni was found in 228 (30%), M. pneumoniae in 77 (10%), hepatitis E virus in 23 (3%), cytomegalovirus in 30 (4%), and Epstein-Barr virus in 7 (1%) patients. Evidence of more than 1 recent infection was found in 49 (6%) of these patients. Symptoms of antecedent infections were reported in 556 patients (72%), and this proportion did not significantly differ between those testing positive or negative for a recent infection. The proportions of infections were similar across continents. The sensorimotor variant and the demyelinating electrophysiologic subtype were most frequent across all infection groups, although proportions were significantly higher in patients with a cytomegalovirus and significantly lower in those with a C. jejuni infection. C. jejuni-positive patients were more severely affected, indicated by a lower Medical Research Council sum score at nadir (p = 0.004) and a longer time to regain the ability to walk independently (p = 0.005). The pure motor variant and axonal electrophysiologic subtype were more frequent in Asian compared with American or European C. jejuni-positive patients (p < 0.001, resp. p = 0.001). Time to nadir was longer in the cytomegalovirus-positive patients (p = 0.004). Discussion Across geographical regions, the distribution o

Published
2022

19. Predicting Outcome in Guillain-Barre Syndrome International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, Alex Y., Lingsma, Hester F., Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Kusunoki, Susumu, Dimachkie, Mazen M., Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H., Chavada, Govindsinh, Willison, Hugh J., Casasnovas, Carlos, Bateman, Kathleen, Miller, James A. L., van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E., Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A., Shahrizaila, Nortina, Galassi, Giuliana, Pereon, Yann, Burmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P., Marchesoni, Cintia, Tous, Maria J. Sedano, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H., Lehmann, Helmar C., Granit, Volkan, Cavaletti, Guido, Gutierrez-Gutierrez, Gerardo, Barroso, Fabio A., Visser, Leo H., Katzberg, Hans D., Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J., Eftimov, Filip, Wirtz, Paul W., Samijn, Johnny P. A., Gilhuis, H. Jacobus, Hadden, Robert D. M., Holt, James K. L., Sheikh, Kazim A., Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E., Faber, Catharina G., Gijsbers, Cees J., Busby, Mark, Roberts, Rhys C., Silvestri, Nicholas J., Fazio, Raffaella, van Dijk, Gert W., Garssen, Marcel P. J., Straathof, Chiara S. M., Gorson, Kenneth C., Jacobs, Bart C., Doets, Alex Y., Lingsma, Hester F., Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Kusunoki, Susumu, Dimachkie, Mazen M., Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H., Chavada, Govindsinh, Willison, Hugh J., Casasnovas, Carlos, Bateman, Kathleen, Miller, James A. L., van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E., Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A., Shahrizaila, Nortina, Galassi, Giuliana, Pereon, Yann, Burmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P., Marchesoni, Cintia, Tous, Maria J. Sedano, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H., Lehmann, Helmar C., Granit, Volkan, Cavaletti, Guido, Gutierrez-Gutierrez, Gerardo, Barroso, Fabio A., Visser, Leo H., Katzberg, Hans D., Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J., Eftimov, Filip, Wirtz, Paul W., Samijn, Johnny P. A., Gilhuis, H. Jacobus, Hadden, Robert D. M., Holt, James K. L., Sheikh, Kazim A., Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E., Faber, Catharina G., Gijsbers, Cees J., Busby, Mark, Roberts, Rhys C., Silvestri, Nicholas J., Fazio, Raffaella, van Dijk, Gert W., Garssen, Marcel P. J., Straathof, Chiara S. M., Gorson, Kenneth C., and Jacobs, Bart C.

Abstract

Background and Objectives The clinical course and outcome of the Guillain-Barre syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, is a clinical model that predicts the risk of walking inability in patients with GBS. The study objective was to validate the mEGOS in the International GBS Outcome Study (IGOS) cohort and to improve its performance and region specificity. Methods We used prospective data from the first 1,500 patients included in IGOS, aged >= 6 years and unable to walk independently. We evaluated whether the mEGOS at entry and week 1 could predict the inability to walk unaided at 4 and 26 weeks in the full cohort and in regional subgroups, using 2 measures for model performance: (1) discrimination: area under the receiver operating characteristic curve (AUC) and (2) calibration: observed vs predicted probability of being unable to walk independently. To improve the model predictions, we recalibrated the model containing the overall mEGOS score, without changing the individual predictive factors. Finally, we assessed the predictive ability of the individual factors. Results For validation of mEGOS at entry, 809 patients were eligible (Europe/North America [n = 677], Asia [n = 76], other [n = 56]), and 671 for validation of mEGOS at week 1 (Europe/North America [n = 563], Asia [n = 65], other [n = 43]). AUC values were >0.7 in all regional subgroups. In the Europe/North America subgroup, observed outcomes were worse than predicted; in Asia, observed outcomes were better than predicted. Recalibration improved model accuracy and enabled the development of a region-specific version for Europe/North America (mEGOS-Eu/NA). Similar to the original mEGOS, severe limb weakness and higher age were the predominant predictors of poor outcome in the IGOS cohort. Discussion mEGOS is a validated tool to predict the inability to walk unaided at 4 and 26 weeks in patients with GBS, a

Published
2022

20. Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, A, Lingsma, H, Walgaard, C, Islam, B, Papri, N, Davidson, A, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Islam, Z, Mohammad, Q, Harbo, T, Sindrup, S, Chavada, G, Willison, H, Casasnovas, C, Bateman, K, Miller, J, van den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Benedetti, L, Kuwabara, S, Van den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Péréon, Y, Bürmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Sedano Tous, M, Querol, L, Illa, I, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Lehmann, H, Granit, V, Cavaletti, G, Gutiérrez-Gutiérrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, van der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Gijsbers, C, Busby, M, Roberts, R, Silvestri, N, Fazio, R, van Dijk, G, Garssen, M, Straathof, C, Gorson, K, Jacobs, B, Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny P A, Gilhuis, H Jacobus, Hadden, Robert D M, Holt, James K L, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel P J, Straathof, Chiara S M, Gorson, Kenneth C, Jacobs, Bart C, Doets, A, Lingsma, H, Walgaard, C, Islam, B, Papri, N, Davidson, A, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Islam, Z, Mohammad, Q, Harbo, T, Sindrup, S, Chavada, G, Willison, H, Casasnovas, C, Bateman, K, Miller, J, van den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Benedetti, L, Kuwabara, S, Van den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Péréon, Y, Bürmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Sedano Tous, M, Querol, L, Illa, I, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Lehmann, H, Granit, V, Cavaletti, G, Gutiérrez-Gutiérrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, van der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Gijsbers, C, Busby, M, Roberts, R, Silvestri, N, Fazio, R, van Dijk, G, Garssen, M, Straathof, C, Gorson, K, Jacobs, B, Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny P A, Gilhuis, H Jacobus, Hadden, Robert D M, Holt, James K L, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel P J, Straathof, Chiara S M, Gorson, Kenneth C, and Jacobs, Bart C

Abstract

Background and objectives: The clinical course and outcome of the Guillain-Barré syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, is a clinical model that predicts the risk of walking inability in patients with GBS. The study objective was to validate the mEGOS in the International GBS Outcome Study (IGOS) cohort and to improve its performance and region specificity. Methods: We used prospective data from the first 1,500 patients included in IGOS, aged ≥6 years and unable to walk independently. We evaluated whether the mEGOS at entry and week 1 could predict the inability to walk unaided at 4 and 26 weeks in the full cohort and in regional subgroups, using 2 measures for model performance: (1) discrimination: area under the receiver operating characteristic curve (AUC) and (2) calibration: observed vs predicted probability of being unable to walk independently. To improve the model predictions, we recalibrated the model containing the overall mEGOS score, without changing the individual predictive factors. Finally, we assessed the predictive ability of the individual factors. Results: For validation of mEGOS at entry, 809 patients were eligible (Europe/North America [n = 677], Asia [n = 76], other [n = 56]), and 671 for validation of mEGOS at week 1 (Europe/North America [n = 563], Asia [n = 65], other [n = 43]). AUC values were >0.7 in all regional subgroups. In the Europe/North America subgroup, observed outcomes were worse than predicted; in Asia, observed outcomes were better than predicted. Recalibration improved model accuracy and enabled the development of a region-specific version for Europe/North America (mEGOS-Eu/NA). Similar to the original mEGOS, severe limb weakness and higher age were the predominant predictors of poor outcome in the IGOS cohort. Discussion: mEGOS is a validated tool to predict the inability to walk unaided at 4 and 26 weeks in patients with

Published
2022

21. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Author

Bladen, Catherine L., Thompson, Rachel, Jackson, Jacqueline M., Garland, Connie, Wegel, Claire, Ambrosini, Anna, Pisano, Paolo, Walter, Maggie C., Schreiber, Olivia, Lusakowska, Anna, Jedrzejowska, Maria, Kostera-Pruszczyk, Anna, van der Pol, Ludo, Wadman, Renske I., Gredal, Ole, Karaduman, Ayse, Topaloglu, Haluk, Yilmaz, Oznur, Matyushenko, Vitaliy, Rasic, Vedrana Milic, Kosac, Ana, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Monges, Soledad, Moresco, Angelica, Chertkoff, Lilien, Chamova, Teodora, Guergueltcheva, Velina, Butoianu, Niculina, Craiu, Dana, Korngut, Lawrence, Campbell, Craig, Haberlova, Jana, Strenkova, Jana, Alejandro, Moises, Jimenez, Alatorre, Ortiz, Genaro Gabriel, Enriquez, Gracia Viviana Gonzalez, Rodrigues, Miriam, Roxburgh, Richard, Dawkins, Hugh, Youngs, Leanne, Lahdetie, Jaana, Angelkova, Natalija, Saugier-Veber, Pascal, Cuisset, Jean-Marie, Bloetzer, Clemens, Jeannet, Pierre-Yves, Klein, Andrea, Nascimento, Andres, Tizzano, Eduardo, Salgado, David, Mercuri, Eugenio, Sejersen, Thomas, Kirschner, Jan, Rafferty, Karen, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Beroud, Christophe, and Lochmüller, Hanns

Published
2014
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22. International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

Author

Ben Yaou, Rabah, Yun, Pomi, D’Amico, Adele, Francesco, Muntoni, Bönnemann, Carsten, Yaou, Rabah, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D'Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler, GóMez-Andrés, David, Foley, A Reghan, Quijano-Roy, Susana, Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), Hôpital Raymond Poincaré [AP-HP], Peking University [Beijing], Institut de Recerca Pediàtrica Hospital Sant Joan de Déu [Barcelona, Spain], Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Department of Neurology, Great Ormond Street Hospital for Children [London] (GOSH), Hospital Nacional de Pediatría J.P. Garrahan, Newcastle Upon Tyne Hospitals NHS Foundation Trust, National Center of Neurology and Psychiatry, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Filière Neuromusculaire (FILNEMUS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de chirurgie pédiatrique [CHU Strasbourg], Les Hôpitaux Universitaires de Strasbourg (HUS), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire de Reims (CHU Reims), and Centre de Recherche en Myologie

Subjects
muscular dystrophy, Laminopathies, striated muscle, early onset, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], LMNA
Abstract

International audience; Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (Median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never aquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (Median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (Median: 7 years, range 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopedic, cardiac, and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.

Published
2021

23. The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Author

Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, Ayşe A., Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, and Lochmüller, Hanns

Published
2015
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24. The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Author

Bladen, Catherine L., Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angélica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Barišić, Nina, Kos, Tea, Brabec, Petr, Rahbek, Jes, Lahdetie, Jaana, Tuffery-Giraud, Sylvie, Claustres, Mireille, Leturcq, France, Ben Yaou, Rabah, Walter, Maggie C., Schreiber, Olivia, Karcagi, Veronika, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, de la caridad Guerrero Sarmiento, Isis, Ambrosini, Anna, Ceradini, Francesca, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Oliveira, Jorge, Santos, Rosário, Neagu, Elena, Butoianu, Niculina, Artemieva, Svetlana, Rasic, Vedrana Milic, Posada, Manuel, Palau, Francesc, Lindvall, Björn, Bloetzer, Clemens, Karaduman, Ayşe, Topaloğlu, Haluk, Inal, Serap, Oflazer, Piraye, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly, Flanigan, Kevin M., Salgado, David, von Rekowski, Brigitta, Lynn, Stephen, Heslop, Emma, Gainotti, Sabina, Taruscio, Domenica, Kirschner, Jan, Verschuuren, Jan, Bushby, Kate, Béroud, Christophe, and Lochmüller, Hanns

Published
2013
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25. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Author

Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xaviere, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Veronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Topf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Bohm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Efthymiou, Stephanie, Noguchi, Satoru, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara, Salpietro, Vincenzo, Darin, Niklas, Faure, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, de Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten, Boennemann, Carsten G., Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xaviere, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Veronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Topf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Bohm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Efthymiou, Stephanie, Noguchi, Satoru, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara, Salpietro, Vincenzo, Darin, Niklas, Faure, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, de Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten, and Boennemann, Carsten G.

Abstract

The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC-45B in muscle disease remained elusive. We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onset progressive muscle weakness. We identified a common UNC45B variant that acts as a complex hypomorph splice variant. Purified UNC-45B mutants showed changes in folding and solubility. In situ localization studies further demonstrated reduced expression of mutant UNC-45B in muscle combined with abnormal localization away from the A-band towards the Z-disk of the sarcomere. The physiological relevance of these observations was investigated in C. elegans by transgenic expression of conserved UNC-45 missense variants, which showed impaired myosin binding for one and defective muscle function for three. Together, our results demonstrate that UNC-45B impairment manifests as a chaperonopathy with progressive muscle pathology, which discovers the previously unknown conserved role of UNC-45B in myofibrillar organization.

Published
2020

26. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Author

Donkervoort, Sandra, primary, Kutzner, Carl E., additional, Hu, Ying, additional, Lornage, Xavière, additional, Rendu, John, additional, Stojkovic, Tanya, additional, Baets, Jonathan, additional, Neuhaus, Sarah B., additional, Tanboon, Jantima, additional, Maroofian, Reza, additional, Bolduc, Véronique, additional, Mroczek, Magdalena, additional, Conijn, Stefan, additional, Kuntz, Nancy L., additional, Töpf, Ana, additional, Monges, Soledad, additional, Lubieniecki, Fabiana, additional, McCarty, Riley M., additional, Chao, Katherine R., additional, Governali, Serena, additional, Böhm, Johann, additional, Boonyapisit, Kanokwan, additional, Malfatti, Edoardo, additional, Sangruchi, Tumtip, additional, Horkayne-Szakaly, Iren, additional, Hedberg-Oldfors, Carola, additional, Efthymiou, Stephanie, additional, Noguchi, Satoru, additional, Djeddi, Sarah, additional, Iida, Aritoshi, additional, di Rosa, Gabriella, additional, Fiorillo, Chiara, additional, Salpietro, Vincenzo, additional, Darin, Niklas, additional, Fauré, Julien, additional, Houlden, Henry, additional, Oldfors, Anders, additional, Nishino, Ichizo, additional, de Ridder, Willem, additional, Straub, Volker, additional, Pokrzywa, Wojciech, additional, Laporte, Jocelyn, additional, Foley, A. Reghan, additional, Romero, Norma B., additional, Ottenheijm, Coen, additional, Hoppe, Thorsten, additional, and Bönnemann, Carsten G., additional

Published
2020
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27. Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders

Author

Malfatti, Edoardo, Olivé, Montse, Taratuto, Ana Lía, Richard, Pascale, Brochier, Guy, Bitoun, Marc, Gueneau, Lucie, Laforêt, Pascal, Stojkovic, Tanya, Maisonobe, Thierry, Monges, Soledad, Lubieniecki, Fabiana, Vasquez, Gabriel, Streichenberger, Nathalie, Lacène, Emmanuelle, Saccoliti, Maria, Prudhon, Bernard, Alexianu, Marilena, Figarella-Branger, Dominique, Schessl, Joachim, Bonnemann, Carsten, Eymard, Bruno, Fardeau, Michel, Bonne, Gisèle, and Romero, Norma Beatriz

Published
2013
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28. An International Perspective on Preceding Infections in Guillain-Barré Syndrome

Author

Leonhard, Sonja E., van der Eijk, Annemiek A., Andersen, Henning, Antonini, Giovanni, Arends, Samuel, Attarian, Shahram, Barroso, Fabio A., Bateman, Kathleen J., Batstra, Manou R., Benedetti, Luana, van den Berg, Bianca, Van den Bergh, Peter, Bürmann, Jan, Busby, Mark, Casasnovas, Carlos, Cornblath, David R., Davidson, Amy, Doets, Alex Y., van Doorn, Pieter A., Dornonville de la Cour, Charlotte, Feasby, Thomas E., Fehmi, Janev, Garcia-Sobrino, Tania, Goldstein, Jonathan M., Gorson, Kenneth C., Granit, Volkan, Hadden, Robert D.M., Harbo, Thomas, Hartung, Hans-Peter, Hasan, Imran, Holbech, Jakob V., Holt, James K.L., Jahan, Israt, Islam, Zhahirul, Karafiath, Summer, Katzberg, Hans D., Kleyweg, Ruud P., Kolb, Noah, Kuitwaard, Krista, Kuwahara, Motoi, Kusunoki, Susumu, Luijten, Linda W.G., Kuwabara, Satoshi, Lee Pan, Edward, Lehmann, Helmar C., Maas, Marijke, Martín-Aguilar, Lorena, Miller, James A.L., Mohammad, Quazi Deen, Monges, Soledad, Nedkova-Hristova, Velina, Nobile-Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Querol, Luis, Reisin, Ricardo, Van Rijs, Wouter, Rinaldi, Simon, Roberts, Rhys C., Roodbol, Joyce, Shahrizaila, Nortina, Sindrup, Søren Hein, Stein, Beth, Cheng-Yin, Tan, Tankisi, Hatice, Tio-Gillen, Anne P., Sedano Tous, María J., Verboon, Christine, Vermeij, Frederique H., Visser, Leo H., Huizinga, Ruth, Willison, Hugh J., and Jacobs, Bart C.

Published
2022
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29. Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases

Author

Moreno, Cristiane Araújo Martins, primary, Estephan, Eduardo de Paula, additional, Fappi, Alan, additional, Monges, Soledad, additional, Lubieniecki, Fabiana, additional, Lopes Abath Neto, Osório, additional, Reed, Umbertina Conti, additional, Donkervoort, Sandra, additional, Harms, Matthew B., additional, Bonnemann, Carsten, additional, and Zanoteli, Edmar, additional

Published
2020
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30. Current treatment practice of Guillain-Barré syndrome.

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Verboon, Christine, Doets, Alex Y, Galassi, Giuliana, Davidson, Amy, Waheed, Waqar, Péréon, Yann, Shahrizaila, Nortina, Kusunoki, Susumu, Lehmann, Helmar C, Harbo, Thomas, Monges, Soledad, Van den Bergh, Peter, Willison, Hugh J, Cornblath, David R, Jacobs, Bart C, IGOS Consortium, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Verboon, Christine, Doets, Alex Y, Galassi, Giuliana, Davidson, Amy, Waheed, Waqar, Péréon, Yann, Shahrizaila, Nortina, Kusunoki, Susumu, Lehmann, Helmar C, Harbo, Thomas, Monges, Soledad, Van den Bergh, Peter, Willison, Hugh J, Cornblath, David R, Jacobs, Bart C, and IGOS Consortium

Abstract

OBJECTIVE: To define the current treatment practice of Guillain-Barré syndrome (GBS). METHODS: The study was based on prospective observational data from the first 1,300 patients included in the International GBS Outcome Study. We described the treatment practice of GBS in general, and for (1) severe forms (unable to walk independently), (2) no recovery after initial treatment, (3) treatment-related fluctuations, (4) mild forms (able to walk independently), and (5) variant forms including Miller Fisher syndrome, taking patient characteristics and hospital type into account. RESULTS: We excluded 88 (7%) patients because of missing data, protocol violation, or alternative diagnosis. Patients from Bangladesh (n = 189, 15%) were described separately because 83% were not treated. IV immunoglobulin (IVIg), plasma exchange (PE), or other immunotherapy was provided in 941 (92%) of the remaining 1,023 patients, including patients with severe GBS (724/743, 97%), mild GBS (126/168, 75%), Miller Fisher syndrome (53/70, 76%), and other variants (33/40, 83%). Of 235 (32%) patients who did not improve after their initial treatment, 82 (35%) received a second immune modulatory treatment. A treatment-related fluctuation was observed in 53 (5%) of 1,023 patients, of whom 36 (68%) were re-treated with IVIg or PE. CONCLUSIONS: In current practice, patients with mild and variant forms of GBS, or with treatment-related fluctuations and treatment failures, are frequently treated, even in absence of trial data to support this choice. The variability in treatment practice can be explained in part by the lack of evidence and guidelines for effective treatment in these situations.

Published
2019

31. Predicting Outcome in Guillain-Barré Syndrome

Author

Doets, Alex Y., Lingsma, Hester F., Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M., Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H., Chavada, Govindsinh, Willison, Hugh J., Casasnovas, Carlos, Bateman, Kathleen, Miller, James A.L., van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E., Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A., Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P., Marchesoni, Cintia, Sedano Tous, María J., Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H., Lehmann, Helmar C., Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A., Visser, Leo H., Katzberg, Hans D., Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J., Eftimov, Filip, Wirtz, Paul W., Samijn, Johnny P.A., Gilhuis, H. Jacobus, Hadden, Robert D.M., Holt, James K.L., Sheikh, Kazim A., Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E., Faber, Catharina G., Gijsbers, Cees J., Busby, Mark, Roberts, Rhys C., Silvestri, Nicholas J., Fazio, Raffaella, van Dijk, Gert W., Garssen, Marcel P.J., Straathof, Chiara S.M., Gorson, Kenneth C., Jacobs, Bart C., Hughes, R.A.C., Cornblath, D.R., Hartung, H.P., van Doorn, P.A., de Koning, L.C., van Woerkom, M., Mandarakas, M., MPhty, BHIthSci(Hons), Reisin, R.C., Reddel, S.W., Ripellino, P., Hsieh, S.T., Addington, J.M., Ajroud-Driss, S., Andersen, H., Badrising, U.A., Bella, I.R., Bertorini, T.E., Bhavaraju-Sanka, R., Bianco, M., Brannagan, T.H., Briani, Chiara, Butterworth, S., Chao, C.C., Chen, S., Claeys, K.G., Conti, M.E., Cosgrove, J.S., Dalakas, M.C., Dornonville de la Cour, C., Echaniz-Laguna, A., Fehmi, J., Fokke, C., Fujioka, T., Fulgenzi, E.A., García-Sobrino, T., Gilchrist, J.M., Goldstein, J.M., Goyal, N.A., Grisanti, S.G., Gutman, L., Holbech, J.V., Homedes, C., Htut, M., Jellema, K., Pascual, I. Jericó, JimenoMontero, M.C., Kaida, K., Khoshnoodi, M., Kiers, L., Kimpinski, K., Köhler, A.A., Kokubun, N., Kuwahara, M., Kwan, J.Y., Ladha, S.S., Lassen, L. Landschoff, Lawson, V., Pan, E.B. Lee, Cejas, L. Léon, Lunn, M.P.T., Magot, A., Manji, H., Infante, C. Márquez, Martín-Aguilar, L., Hernandez, E. Martinez, Mataluni, G., Mattiazzi, M.G., McDermott, C.J., Meekins, G.D., Morís de la Tassa, G., Nascimbene, C., Nowak, R.J., Osei-Bonsu, M., Pascuzzi, R.M., Prada, V., Rojas-Marcos, I., Rudnicki, S.A., Sachs, G.M., Samukawa, M., Santoro, L., Savransky, A.G., Schwindling, L., Sekiguchi, Y., Sommer, C.L., Spyropoulos, A., Stein, B., Stino, A.M., Tan, C.Y., Tankisi, H., Twydell, P.T., van Damme, P., van der Ree, T., van Koningsveld, R., Varrato, J.D., Xing, C., Zhou, L., and Zivkovic, S.

Published
2022
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32. Regional variation of Guillain-Barré syndrome

Author

Doets, Alex Y., Verboon, Christine, Van Den Berg, Bianca, Harbo, Thomas, Cornblath, David R., Willison, Hugh J., Islam, Zhahirul, Attarian, Shahram, Barroso, Fabio A., Bateman, Kathleen, Benedetti, Luana, Van Den Bergh, Peter, Casasnovas, Carlos, Cavaletti, Guido, Chavada, Govindsinh, Claeys, Kristl G., Dardiotis, Efthimios, Davidson, Amy, Van Doorn, Pieter A., Feasby, Tom E., Galassi, Giuliana, Gorson, Kenneth C., Hartung, Hans-Peter, Hsieh, Sung-Tsang, Hughes, Richard A. C., Illa, Isabel, Islam, Badrul, Kusunoki, Susumu, Kuwabara, Satoshi, Lehmann, Helmar C., Miller, James A. L., Mohammad, Quazi Deen, Monges, Soledad, Nobile Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Rinaldi, Simon, Querol, Luis, Reddel, Stephen W., Reisin, Ricardo C., Shahrizaila, Nortina, Sindrup, Soren H., Waqar, Waheed, Jacobs, Bart C., Jacobs, Bc, Hughes, Rac, Cornblath, Dr, Gorson, Kc, Hartung, Hp, Kusunoki, S, van Doorn PA, Willison, Hj, van Woerkom, M, van den Berg, B, Verboon, C, Doets, Ay, Roodbol, J, Reisin, Rc, Reddel, Sw, Islam, Z, Islam, B, Mohammad, Qd, van den Bergh, P, Feasby, Te, Harbo, T, Péréon, Y, Lehmann, Hc, Dardiotis, E, Nobile-Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, St, Chavada, G, Davidson, A, Addington, Jm, Ajroud-Driss, S, Andersen, H, Antonini, G, Ariatti, A, Attarian, S, Badrising, Ua, Barroso, Fa, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bunschoten, C, Bürmann, J, Bella, Ir, Bertorini, Te, Bhavaraju-Sanka, R, Brannagan, Th, Busby, M, Butterworth, S, Casasnovas, C, Cavaletti, G, Chao, Cc, Chetty, S, Claeys, Kg, Conti, Me, Cosgrove, Js, Dalakas, Mc, Derejko, Ma, Dimachkie, Mm, Doppler, K, Dornonville de la Cour, C, Echaniz-Laguna, A, Eftimov, F, Faber, Cg, Fazio, R, Fujioka, T, Fulgenzi, Ea, Galassi, G, Garcia-Sobrino, T, Garnero, M, Garssen, Mpj, Gijsbers, Cj, Gilchrist, Jm, Goldstein, Jm, Granit, V, Grapperon, A, Gutiérrez, G, Hadden, Rdm, Holbech, Jv, Holt, Jkl, Homedes Pedret, C, Htut, M, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, Hd, Kiers, L, Kieseier, Bc, Kimpinski, K, Kleyweg, Rp, Kokubun, N, Kolb, Na, Kuitwaard, K, Kuwabara, S, Kwan, Jy, Ladha, Ss, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Lucy, St, Lunn, Mpt, Magot, A, Manji, H, Marchesoni, C, Marfia, Ga, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mcdermott, Cj, Meekins, Gd, Miller, Jal, Monges, Ms, Montero, Mcj, Morís de la Tassa, G, Mozzoni, J, Nascimbene, C, Nowak, Rj, Orizaloa Balaguer, P, Osei-Bonsu, M, Lee Pan EB, Pardo, J, Pasnoor, M, Rajabally, Ya, Rinaldi, S, Ritter, C, Roberts, Rc, Rojas-Marcos, I, Rudnicki, Sa, Ruiz, M, Sachs, Gm, Samijn, Jpa, Santoro, L, Schenone, A, Schwindling, L, Sedano Tous MJ, Sekiguchi, Y, Sheikh, Ka, Silvestri, Nj, Sindrup, Sh, Sommer, Cl, Stein, B, Stino, Am, Spyropoulos, A, Srinivasan, J, Suzuki, H, Tankisi, H, Tigner, D, Twydell, Pt, van Damme, P, van der Kooi AJ, van Dijk GW, van der Ree, T, van Koningsveld, R, Varrato, Jd, Vermeij, Fh, Visser, Lh, Vytopil, Mv, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, Pw, Yamagishi, Y, Zhou, L, Zivkovic, S., Doets, A, Verboon, C, van den Berg, B, Harbo, T, Cornblath, D, Willison, H, Islam, Z, Attarian, S, Barroso, F, Bateman, K, Benedetti, L, van den Bergh, P, Casasnovas, C, Cavaletti, G, Chavada, G, Claeys, K, Dardiotis, E, Davidson, A, van Doorn, P, Feasby, T, Galassi, G, Gorson, K, Hartung, H, Hsieh, S, Hughes, R, Illa, I, Islam, B, Kusunoki, S, Kuwabara, S, Lehmann, H, Miller, J, Mohammad, Q, Monges, S, Nobile Orazio, E, Pardo, J, Pereon, Y, Rinaldi, S, Querol, L, Reddel, S, Reisin, R, Shahrizaila, N, Sindrup, S, Waqar, W, Jacobs, B, Neurology, AII - Infectious diseases, AII - Inflammatory diseases, ANS - Neuroinfection & -inflammation, Immunology, UCL - SSS/IONS/NEUR - Clinical Neuroscience, and UCL - (SLuc) Service de neurologie

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, clinical course, Guillain-Barre Syndrome, 03 medical and health sciences, Young Adult, 0302 clinical medicine, axonal degeneration, demyelination, outcome, polyradiculoneuropathy, Internal medicine, Severity of illness, medicine, Humans, 030212 general & internal medicine, Young adult, Child, Geographic difference, Aged, Aged, 80 and over, Guillain-Barre syndrome, Polyradiculoneuropathy, Overlap syndrome, Middle Aged, medicine.disease, Regional variation, Child, Preschool, neurology, Settore MED/26 - Neurologia, Female, Neurology (clinical), 030217 neurology & neurosurgery, Cohort study, polyradiculoneuropathy, demyelination, axonal degeneration, clinical course, outcome
Abstract

Guillain-Barré syndrome is a heterogeneous disorder regarding the clinical presentation, electrophysiological subtype and outcome. Previous single country reports indicate that Guillain-Barré syndrome may differ among regions, but no systematic comparative studies have been conducted. Comparative studies are required to identify factors determining disease susceptibility, variation and prognosis, and to improve diagnostic criteria. The International Guillain-Barré Syndrome Outcome Study is a prospective, observational cohort study including all patients within the diagnostic spectrum, aiming to describe the heterogeneity of Guillain-Barré syndrome worldwide. The current study was based on the first 1000 inclusions with a follow-up of at least 1 year and confirmed the variation in clinical presentation, course and outcome between patients. The full clinical spectrum of Guillain-Barré syndrome was observed in patients from all countries participating in the International Guillain-Barré Syndrome Outcome Study, but the frequency of variants differed between regions. We compared three regions based on geography, income and previous reports of Guillain-Barré syndrome subtypes: 'Europe/Americas', 'Asia' (without Bangladesh), and 'Bangladesh'. We excluded 75 (8%) patients because of alternative diagnoses, protocol violations, or missing data. The predominant clinical variant was sensorimotor in Europe/Americas (n = 387/562, 69%) and Asia (n = 27/63, 43%), and pure motor in Bangladesh (n = 74/107, 69%). Miller Fisher syndrome and Miller Fisher-Guillain-Barré overlap syndrome were more common in Asia (n = 14/63, 22%) than in the other two regions (Europe/Americas: n = 64/562, 11%; Bangladesh: n = 1/107, 1%) (P < 0.001). The predominant electrophysiological subtype was demyelinating in all regions (Europe/Americas: n = 312/573, 55%; Asia: n = 29/65, 45%; Bangladesh: n = 38/94, 40%). The axonal subtype occurred more often in Bangladesh (n = 34/94, 36%) than in Europe/Americas (n = 33/573, 6%) and other Asian countries (n = 4/65, 6%) (P < 0.001). In all regions, patients with the axonal subtype were younger, had fewer sensory deficits, and showed a trend towards poorer recovery compared to patients with the demyelinating subtype. The proportion of patients able to walk unaided after 1 year varied between Asia (n = 31/34, 91%), Europe/Americas (n = 334/404, 83%) and Bangladesh (n = 67/97, 69%) (P = 0.003). A similar variation was seen for mortality, being higher in Bangladesh (n = 19/114, 17%) than in Europe/Americas (n = 23/486, 5%) and Asia (n = 1/45, 2%) (P < 0.001). This study showed that factors related to geography have a major influence on clinical phenotype, disease severity, electrophysiological subtype, and outcome of Guillain-Barré syndrome.

Published
2018

33. Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia

Author

Pinto, Miguel M., primary, Monges, Soledad, additional, Malfatti, Edoardo, additional, Lubieniecki, Fabiana, additional, Lornage, Xavière, additional, Alias, Laura, additional, Labasse, Clémence, additional, Madelaine, Angéline, additional, Fardeau, Michel, additional, Laporte, Jocelyn, additional, Tizzano, Eduardo F., additional, and Romero, Norma B., additional

Published
2018
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34. Regional variation of Guillain-Barré syndrome.

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Doets, Alex Y, Verboon, Christine, van den Berg, Bianca, Harbo, Thomas, Cornblath, David R, Willison, Hugh J, Islam, Zhahirul, Attarian, Shahram, Barroso, Fabio A, Bateman, Kathleen, Benedetti, Luana, Van den Bergh, Peter, Casasnovas, Carlos, Cavaletti, Guido, Chavada, Govindsinh, Claeys, Kristl G, Dardiotis, Efthimios, Davidson, Amy, van Doorn, Pieter A, Feasby, Tom E, Galassi, Giuliana, Gorson, Kenneth C, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Hughes, Richard A C, Illa, Isabel, Islam, Badrul, Kusunoki, Susumu, Kuwabara, Satoshi, Lehmann, Helmar C, Miller, James A L, Mohammad, Quazi Deen, Monges, Soledad, Nobile Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Rinaldi, Simon, Querol, Luis, Reddel, Stephen W, Reisin, Ricardo C, Shahrizaila, Nortina, Sindrup, Soren H, Waqar, Waheed, Jacobs, Bart C, IGOS Consortium, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Doets, Alex Y, Verboon, Christine, van den Berg, Bianca, Harbo, Thomas, Cornblath, David R, Willison, Hugh J, Islam, Zhahirul, Attarian, Shahram, Barroso, Fabio A, Bateman, Kathleen, Benedetti, Luana, Van den Bergh, Peter, Casasnovas, Carlos, Cavaletti, Guido, Chavada, Govindsinh, Claeys, Kristl G, Dardiotis, Efthimios, Davidson, Amy, van Doorn, Pieter A, Feasby, Tom E, Galassi, Giuliana, Gorson, Kenneth C, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Hughes, Richard A C, Illa, Isabel, Islam, Badrul, Kusunoki, Susumu, Kuwabara, Satoshi, Lehmann, Helmar C, Miller, James A L, Mohammad, Quazi Deen, Monges, Soledad, Nobile Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Rinaldi, Simon, Querol, Luis, Reddel, Stephen W, Reisin, Ricardo C, Shahrizaila, Nortina, Sindrup, Soren H, Waqar, Waheed, Jacobs, Bart C, and IGOS Consortium

Abstract

Guillain-Barré syndrome is a heterogeneous disorder regarding the clinical presentation, electrophysiological subtype and outcome. Previous single country reports indicate that Guillain-Barré syndrome may differ among regions, but no systematic comparative studies have been conducted. Comparative studies are required to identify factors determining disease susceptibility, variation and prognosis, and to improve diagnostic criteria. The International Guillain-Barré Syndrome Outcome Study is a prospective, observational cohort study including all patients within the diagnostic spectrum, aiming to describe the heterogeneity of Guillain-Barré syndrome worldwide. The current study was based on the first 1000 inclusions with a follow-up of at least 1 year and confirmed the variation in clinical presentation, course and outcome between patients. The full clinical spectrum of Guillain-Barré syndrome was observed in patients from all countries participating in the International Guillain-Barré Syndrome Outcome Study, but the frequency of variants differed between regions. We compared three regions based on geography, income and previous reports of Guillain-Barré syndrome subtypes: 'Europe/Americas', 'Asia' (without Bangladesh), and 'Bangladesh'. We excluded 75 (8%) patients because of alternative diagnoses, protocol violations, or missing data. The predominant clinical variant was sensorimotor in Europe/Americas (n = 387/562, 69%) and Asia (n = 27/63, 43%), and pure motor in Bangladesh (n = 74/107, 69%). Miller Fisher syndrome and Miller Fisher-Guillain-Barré overlap syndrome were more common in Asia (n = 14/63, 22%) than in the other two regions (Europe/Americas: n = 64/562, 11%; Bangladesh: n = 1/107, 1%) (P < 0.001). The predominant electrophysiological subtype was demyelinating in all regions (Europe/Americas: n = 312/573, 55%; Asia: n = 29/65, 45%; Bangladesh: n = 38/94, 40%). The axonal subtype occurred more often in Bangladesh (n = 34/94, 36%) than in Europe/Americas (

Published
2018

35. Regional variation of Guillain-Barre syndrome

Author

van den Berg, Bianca, Doets, Alex, Verboon, Christine, Harbo, Thomas, Cornblath, David, Willison, Hugh, Islam, Zhahir, Attarian, Shahram, Barroso, Fabio, Bateman, Kathleen, Benedetti, Luana, Van den Bergh, Peter, Casasnovas, Carlos, Cavaletti, Guido, Chavada, Govind, Claeys, Kristl, Dardiotis, Efthimios, Davidson, Amy, Van Doom, Pieter, Feasby, Tom, Galassi, Guliana, Gorson, Ken, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Hughes, Richard A. C., Illa, Isabel, Islam, Badrul, Kusunoki, Susumu, Kuwabara, Satoshi, Lehmann, Helmar, AL Miller, James, Mohammad, Quazi Deen, Monges, Soledad, Nobile Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Rinaldi, Simon, Querol, Luis, Reddel, Stephen, Reisin, Ricardo, Shahrizaila, Nortina, Sindrup, Soren, Waqar, Waheed, Jacobs, Bart, van den Berg, Bianca, Doets, Alex, Verboon, Christine, Harbo, Thomas, Cornblath, David, Willison, Hugh, Islam, Zhahir, Attarian, Shahram, Barroso, Fabio, Bateman, Kathleen, Benedetti, Luana, Van den Bergh, Peter, Casasnovas, Carlos, Cavaletti, Guido, Chavada, Govind, Claeys, Kristl, Dardiotis, Efthimios, Davidson, Amy, Van Doom, Pieter, Feasby, Tom, Galassi, Guliana, Gorson, Ken, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Hughes, Richard A. C., Illa, Isabel, Islam, Badrul, Kusunoki, Susumu, Kuwabara, Satoshi, Lehmann, Helmar, AL Miller, James, Mohammad, Quazi Deen, Monges, Soledad, Nobile Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Rinaldi, Simon, Querol, Luis, Reddel, Stephen, Reisin, Ricardo, Shahrizaila, Nortina, Sindrup, Soren, Waqar, Waheed, and Jacobs, Bart

Published
2018

36. Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Author

Ávila-Polo, Rainiero, primary, Malfatti, Edoardo, additional, Lornage, Xavière, additional, Cheraud, Chrystel, additional, Nelson, Isabelle, additional, Nectoux, Juliette, additional, Böhm, Johann, additional, Schneider, Raphaël, additional, Hedberg-Oldfors, Carola, additional, Eymard, Bruno, additional, Monges, Soledad, additional, Lubieniecki, Fabiana, additional, Brochier, Guy, additional, Thao Bui, Mai, additional, Madelaine, Angeline, additional, Labasse, Clémence, additional, Beuvin, Maud, additional, Lacène, Emmanuelle, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Thompson, Julie, additional, Richard, Isabelle, additional, Taratuto, Ana Lía, additional, Udd, Bjarne, additional, Leturcq, France, additional, Bonne, Gisèle, additional, Oldfors, Anders, additional, Laporte, Jocelyn, additional, and Romero, Norma Beatriz, additional

Published
2018
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37. Intraneural perineuriomas: diagnostic value of magnetic resonance neurography

Author

León Cejas, Luciana, primary, Binaghi, Daniela, additional, Socolovsky, Mariano, additional, Dubrovsky, Alberto, additional, Pirra, Laura, additional, Marchesoni, Cintia, additional, Pardal, Ana, additional, Monges, Soledad, additional, Peretti, Gabriela, additional, Taratuto, Ana L., additional, Lubinieki, Fabiana, additional, and Reisin, Ricardo, additional

Published
2017
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38. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Author

Koeks, Zaïda, primary, Bladen, Catherine L., additional, Salgado, David, additional, van Zwet, Erik, additional, Pogoryelova, Oksana, additional, McMacken, Grace, additional, Monges, Soledad, additional, Foncuberta, Maria E., additional, Kekou, Kyriaki, additional, Kosma, Konstantina, additional, Dawkins, Hugh, additional, Lamont, Leanne, additional, Bellgard, Matthew I., additional, Roy, Anna J., additional, Chamova, Teodora, additional, Guergueltcheva, Velina, additional, Chan, Sophelia, additional, Korngut, Lawrence, additional, Campbell, Craig, additional, Dai, Yi, additional, Wang, Jen, additional, Barišić, Nina, additional, Brabec, Petr, additional, Lähdetie, Jaana, additional, Walter, Maggie C., additional, Schreiber-Katz, Olivia, additional, Karcagi, Veronika, additional, Garami, Marta, additional, Herczegfalvi, Agnes, additional, Viswanathan, Venkatarman, additional, Bayat, Farhad, additional, Buccella, Filippo, additional, Ferlini, Alessandra, additional, Kimura, En, additional, van den Bergen, Janneke C., additional, Rodrigues, Miriam, additional, Roxburgh, Richard, additional, Lusakowska, Anna, additional, Kostera-Pruszczyk, Anna, additional, Santos, Rosário, additional, Neagu, Elena, additional, Artemieva, Svetlana, additional, Rasic, Vedrana Milic, additional, Vojinovic, Dina, additional, Posada, Manuel, additional, Bloetzer, Clemens, additional, Klein, Andrea, additional, Díaz-Manera, Jordi, additional, Gallardo, Eduard, additional, Karaduman, A. Ayşe, additional, Oznur, Tunca, additional, Topaloğlu, Haluk, additional, El Sherif, Rasha, additional, Stringer, Angela, additional, Shatillo, Andriy V., additional, Martin, Ann S., additional, Peay, Holly L., additional, Kirschner, Jan, additional, Flanigan, Kevin M., additional, Straub, Volker, additional, Bushby, Kate, additional, Béroud, Christophe, additional, Verschuuren, Jan J., additional, and Lochmüller, Hanns, additional

Published
2017
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39. Clinical outcomes in Duchenne Muscular Dystrophy: A study of 5345 patients from the TREAT-NMD DMD Global Database

Author

Koeks, Zaida, Bladen, Catherine, Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria, Kekou, Kyriaki, Kosma, Konstantina, Bellgard, Matthew, other, and, Koeks, Zaida, Bladen, Catherine, Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria, Kekou, Kyriaki, Kosma, Konstantina, Bellgard, Matthew, and other, and

Abstract

Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. Objective: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients. Methods: In this cross-sectional study we analysed clinical data from 5345 genetically confirmed DMD patients from 31 countries held within the TREAT-NMD global DMD database. For analysis patients were categorised by corticosteroid background and further stratified by age. Results: Loss of ambulation in non-steroid treated patients was 10 years and in corticosteroid treated patients 13 years old (p = 0.0001). Corticosteroid treated patients were less likely to need scoliosis surgery (p < 0.001) or ventilatory support (p < 0.001) and there was a mild cardioprotective effect of corticosteroids in the patient population aged 20 years and older (p = 0.0035). Patients with a single deletion of exon 45 showed an increased survival in contrast to other single exon deletions. Conclusions: This study provides data on clinical outcomes of DMD across many healthcare settings and including a sizeable cohort of older patients. Our data confirm the benefits of corticosteroid treatment on ambulation, need for scoliosis surgery, ventilation and, to a lesser extent, cardiomyopathy. This study underlines the importance of data collection via patient registries and the critical role of multi-centre collaboration in the rare disease field.

Published
2017

41. Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Author

Pinto, Miguel M., Monges, Soledad, Malfatti, Edoardo, Lubieniecki, Fabiana, Lornage, Xavière, Alias, Laura, Labasse, Clémence, Madelaine, Angéline, Fardeau, Michel, Laporte, Jocelyn, Tizzano, Eduardo F., and Romero, Norma B.

Subjects
*BIOPSY, *COMPARATIVE studies, *ESTERASES, *LONGITUDINAL method, *RESEARCH methodology, *MEDICAL cooperation, *MUSCLE diseases, *GENETIC mutation, *NEURODEGENERATION, *PROTEINS, *RESEARCH, *RESEARCH funding, *SARCOMA, *EVALUATION research, *SKELETAL muscle
Abstract

Introduction: Mutations in the EXOSC3 gene are responsible for type 1 pontocerebellar hypoplasia, an autosomal recessive congenital disorder characterized by cerebellar atrophy, developmental delay, and anterior horn motor neuron degeneration. Muscle biopsies of these patients often show characteristics resembling classic spinal muscle atrophy, but to date, no distinct features have been identified.Methods: Clinical data and muscle biopsy findings of 3 unrelated patients with EXOSC3 mutations are described.Results: All patients presented as a severe congenital cognitive and neuromuscular phenotype with short survival, harboring the same point mutation (c.92G>C; p.Gly31Ala). Muscle biopsies consistently showed variable degrees of sarcomeric disorganization with myofibrillar remnants, Z-line thickening, and small nemaline bodies.Conclusions: In this uniform genetic cohort of patients with EXOSC3 mutations, sarcomeric disruption and rod structures were prominent features of muscle biopsies. In the context of neonatal hypotonia, ultrastructural studies might provide early clues for the diagnosis of EXOSC3-related pontocerebellar hypoplasia. Muscle Nerve 59:137-141, 2019. [ABSTRACT FROM AUTHOR]

Published
2019
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42. Intraneural Perineurioma: The Value of MRI Neurography (P4.082)

Author

Leon Cejas, Luciana, primary, Vargas Flores, Gabriela, additional, Binaghi, Daniela, additional, Socolovsky, Mariano, additional, Marchesoni, Cintia, additional, Pardal, Ana, additional, Dubrovsky, Alberto, additional, Monges, Soledad, additional, Taratuto, Ana Lia, additional, and Reisin, Ricardo, additional

Published
2016
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43. The TREAT-NMD DMD Global Database: Analysis of more than 7,000 Duchenne muscular dystrophy mutations

Author

Bladen, Catherine, Salgado, David, Monges, Soledad, Foncuberta, Maria, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna, Chamova, Teodora, Bellgard, Matthew, other, and, Bladen, Catherine, Salgado, David, Monges, Soledad, Foncuberta, Maria, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna, Chamova, Teodora, Bellgard, Matthew, and other, and

Abstract

Analyzing the type and frequency of patient‐specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus‐specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT‐NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid‐intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read‐through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).

Published
2015

45. Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

Author

Malfatti, Edoardo, primary, Lehtokari, Vilma-Lotta, additional, Böhm, Johann, additional, De Winter, Josine M, additional, Schäffer, Ursula, additional, Estournet, Brigitte, additional, Quijano-Roy, Susana, additional, Monges, Soledad, additional, Lubieniecki, Fabiana, additional, Bellance, Remi, additional, Viou, Mai Thao, additional, Madelaine, Angéline, additional, Wu, Bin, additional, Taratuto, Ana Lía, additional, Eymard, Bruno, additional, Pelin, Katarina, additional, Fardeau, Michel, additional, Ottenheijm, Coen AC, additional, Wallgren-Pettersson, Carina, additional, Laporte, Jocelyn, additional, and Romero, Norma B, additional

Published
2014
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46. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Author

Bladen, Catherine L., primary, Thompson, Rachel, additional, Jackson, Jacqueline M., additional, Garland, Connie, additional, Wegel, Claire, additional, Ambrosini, Anna, additional, Pisano, Paolo, additional, Walter, Maggie C., additional, Schreiber, Olivia, additional, Lusakowska, Anna, additional, Jedrzejowska, Maria, additional, Kostera-Pruszczyk, Anna, additional, van der Pol, Ludo, additional, Wadman, Renske I., additional, Gredal, Ole, additional, Karaduman, Ayse, additional, Topaloglu, Haluk, additional, Yilmaz, Oznur, additional, Matyushenko, Vitaliy, additional, Rasic, Vedrana Milic, additional, Kosac, Ana, additional, Karcagi, Veronika, additional, Garami, Marta, additional, Herczegfalvi, Agnes, additional, Monges, Soledad, additional, Moresco, Angelica, additional, Chertkoff, Lilien, additional, Chamova, Teodora, additional, Guergueltcheva, Velina, additional, Butoianu, Niculina, additional, Craiu, Dana, additional, Korngut, Lawrence, additional, Campbell, Craig, additional, Haberlova, Jana, additional, Strenkova, Jana, additional, Alejandro, Moises, additional, Jimenez, Alatorre, additional, Ortiz, Genaro Gabriel, additional, Enriquez, Gracia Viviana Gonzalez, additional, Rodrigues, Miriam, additional, Roxburgh, Richard, additional, Dawkins, Hugh, additional, Youngs, Leanne, additional, Lahdetie, Jaana, additional, Angelkova, Natalija, additional, Saugier-Veber, Pascal, additional, Cuisset, Jean-Marie, additional, Bloetzer, Clemens, additional, Jeannet, Pierre-Yves, additional, Klein, Andrea, additional, Nascimento, Andres, additional, Tizzano, Eduardo, additional, Salgado, David, additional, Mercuri, Eugenio, additional, Sejersen, Thomas, additional, Kirschner, Jan, additional, Rafferty, Karen, additional, Straub, Volker, additional, Bushby, Kate, additional, Verschuuren, Jan, additional, Beroud, Christophe, additional, and Lochmüller, Hanns, additional

Published
2013
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47. Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Author

Juan-Mateu, Jonàs, primary, González-Quereda, Lidia, additional, Rodríguez, Maria José, additional, Verdura, Edgard, additional, Lázaro, Kira, additional, Jou, Cristina, additional, Nascimento, Andrés, additional, Jiménez-Mallebrera, Cecilia, additional, Colomer, Jaume, additional, Monges, Soledad, additional, Lubieniecki, Fabiana, additional, Foncuberta, Maria Eugenia, additional, Pascual-Pascual, Samuel Ignacio, additional, Molano, Jesús, additional, Baiget, Montserrat, additional, and Gallano, Pia, additional

Published
2013
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48. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients

Author

Cho, Tae-Joon, primary, Matsumoto, Kazu, additional, Fano, Virginia, additional, Dai, Jin, additional, Kim, Ok-Hwa, additional, Chae, Jong Hee, additional, Yoo, Won Joon, additional, Tanaka, Yuji, additional, Matsui, Yoshito, additional, Takigami, Iori, additional, Monges, Soledad, additional, Zabel, Bernhard, additional, Shimizu, Katsuji, additional, Nishimura, Gen, additional, Lausch, Ekkehart, additional, and Ikegawa, Shiro, additional

Published
2012
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49. Early onset collagen VI myopathies: Genetic and clinical correlations

Author

Briñas, Laura, primary, Richard, Pascale, additional, Quijano‐Roy, Susana, additional, Gartioux, Corine, additional, Ledeuil, Céline, additional, Lacène, Emmanuelle, additional, Makri, Samira, additional, Ferreiro, Ana, additional, Maugenre, Svetlana, additional, Topaloglu, Haluk, additional, Haliloglu, Göknur, additional, Pénisson‐Besnier, Isabelle, additional, Jeannet, Pierre‐Yves, additional, Merlini, Luciano, additional, Navarro, Carmen, additional, Toutain, Annick, additional, Chaigne, Denys, additional, Desguerre, Isabelle, additional, de Die‐Smulders, Christine, additional, Dunand, Murielle, additional, Echenne, Bernard, additional, Eymard, Bruno, additional, Kuntzer, Thierry, additional, Maincent, Kim, additional, Mayer, Michèle, additional, Plessis, Ghislaine, additional, Rivier, François, additional, Roelens, Filip, additional, Stojkovic, Tanya, additional, Lía Taratuto, Ana, additional, Lubieniecki, Fabiana, additional, Monges, Soledad, additional, Tranchant, Christine, additional, Viollet, Louis, additional, Romero, Norma B., additional, Estournet, Brigitte, additional, Guicheney, Pascale, additional, and Allamand, Valérie, additional

Published
2010
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50. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

Author

Bitoun, Marc, primary, Bevilacqua, Jorge A., additional, Prudhon, Bernard, additional, Maugenre, Svetlana, additional, Taratuto, Ana Lia, additional, Monges, Soledad, additional, Lubieniecki, Fabiana, additional, Cances, Claude, additional, Uro‐Coste, Emmanuelle, additional, Mayer, Michèle, additional, Fardeau, Michel, additional, Romero, Norma B., additional, and Guicheney, Pascale, additional

Published
2007
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