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2. Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009–2019)

Author

Adams, D., Cintas, P., Solé, G., Tard, C., Labeyrie, C., Echaniz-Laguna, A., Cauquil, C., Pereon, Y., Magy, L., Morales, R. Juntas, Antoine, J.C., Lagrange, E., Petiot, P., Mallaret, M., Francou, B., Guiochon-Mantel, A., Coste, A., Demarcq, O., Geffroy, C., Famelart, V., Rudant, J, Bartoli, M, Donal, E., Lairez, O., Eicher, J.C., Kharoubi, M., Oghina, S., Trochu, J.N., Inamo, J., Habib, G., Roubille, F., Hagège, A., Morio, F., Cariou, E., Adda, J., Slama, M.S., Charron, P., Algalarrondo, V., Damy, T., and Attarian, S.

Published
2024
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5. A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

Author

Barrois, R., Barnerias, C., Deladrière, E., Leloup-Germa, V., Tervil, B., Audic, F., Boulay, C., Cances, C., Cintas, P., Davion, J.B., Espil-Taris, C., Manel, V., Pereon, Y., Piarroux, J., Quijano Roy, S., Vuillerot, C., Walther-Louvier, U., Desguerre, I., and Gitiaux, C.

Published
2023
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13. Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

Author

El-Hassar, L., Amara, A., Sanson, B., Lacatus, O., Amir Belhouchet, A., Kroneman, M., Claeys, K., Plançon, J.P., Rodolico, C., Primiano, G., Trojsi, F., Filosto, M., Mongini, T.E., Bortolani, S., Monforte, M., Carraro, E., Maggi, L., Ricci, F., Silani, V., Orsucci, D., Créange, A., Péréon, Y., Stojkovic, T., Beek, N.A. van der, Toscano, A., Pareyson, D., Attarian, S., Bergh, P.Y.K. Van den, Remiche, G., Hoeijmakers, J.G.J., Badrising, U., Voermans, N.C., Kaindl, A.M., Schara-Schmidt, U., Schoser, B., Gazzerro, E., Haberlová, J., Voháňka, S., Pál, E., Molnar, M.J., Leonardis, L., Tournev, I.L., Osorio, A.N., Olivé, M., Muelas, N., Alonso-Perez, J., Plá, F., Visser, Marianne de, Siciliano, G., Sacconi, S., El-Hassar, L., Amara, A., Sanson, B., Lacatus, O., Amir Belhouchet, A., Kroneman, M., Claeys, K., Plançon, J.P., Rodolico, C., Primiano, G., Trojsi, F., Filosto, M., Mongini, T.E., Bortolani, S., Monforte, M., Carraro, E., Maggi, L., Ricci, F., Silani, V., Orsucci, D., Créange, A., Péréon, Y., Stojkovic, T., Beek, N.A. van der, Toscano, A., Pareyson, D., Attarian, S., Bergh, P.Y.K. Van den, Remiche, G., Hoeijmakers, J.G.J., Badrising, U., Voermans, N.C., Kaindl, A.M., Schara-Schmidt, U., Schoser, B., Gazzerro, E., Haberlová, J., Voháňka, S., Pál, E., Molnar, M.J., Leonardis, L., Tournev, I.L., Osorio, A.N., Olivé, M., Muelas, N., Alonso-Perez, J., Plá, F., Visser, Marianne de, Siciliano, G., and Sacconi, S.

Abstract

Item does not contain fulltext, BACKGROUND: Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients' homes with neuromuscular disease (NMD) because of mobility issues. However, its deployment is limited due to difficulties evaluating subtle neurological signs such as mild weakness or sensory deficits. The COVID-19 pandemic has disrupted healthcare delivery worldwide, necessitating rapid measures implementation by health care providers (HCPs) to protect patients from acquiring SARS-CoV-2 while maintaining the best care and treatment. OBJECTIVES: Given the challenges faced by remote healthcare assistance of NMD patients, we aim to evaluate the use of TM in NMD during the COVID-19 pandemic. METHODS: Based on the Model for Assessment-of-Telemedicine-Applications (MAST), we conducted a survey amongst clinicians of the ERN EURO NMD (European-Reference-Network-for-Rare-Neuromuscular-Diseases). RESULTS: Based on 42 responses over 76 expected ones, our results show that the COVID-19 pandemic significantly increased the number of HCPs using TM (from 60% to 100%). The TM types most used during the COVID-19 period are teleconsultation and consultation by phone, particularly in the context of symptoms worsening in NMD patients with COVID-19 infection. Most European HCPs were satisfied when using TM but as a complementary option to physical consultations. Many responses addressed the issue of technical aspects needing improvement, particularly for elderly patients who need caregivers' assistance for accessing the TM platform. CONCLUSIONS: TM has been essential during COVID-19, but its use still presents some limitations for NMD patients with cognitive deficits or for first-time diagnosis. Thus, TM should be used as complement to, rather than substitute, for face-to-face consultations.

Published
2023

15. Somatosensory evoked potentials in the assessment of peripheral neuropathies: Commented results of a survey among French-speaking practitioners and recommendations for practice

Author

Morizot-Koutlidis, R., André-Obadia, N., Antoine, J.-C., Attarian, S., Ayache, S.S., Azabou, E., Benaderette, S., Camdessanché, J.-P., Cassereau, J., Convers, P., d’Anglejean, J., Delval, A., Durand, M.-C., Etard, O., Fayet, G., Fournier, E., Franques, J., Gavaret, M., Guehl, D., Guerit, J.-M., Krim, E., Kubis, N., Lacour, A., Lozeron, P., Mauguière, F., Merle, P.-E., Mesrati, F., Mutschler, V., Nicolas, G., Nordine, T., Pautot, V., Péréon, Y., Petiot, P., Pouget, J., Praline, J., Salhi, H., Trébuchon, A., Tyvaert, L., Vial, C., Zola, J.-M., Zyss, J., and Lefaucheur, J.-P.

Published
2015
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22. 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

24. ASHAM Analyse sociologique des habitudes de vie des adultes atteints de Dystrophie myotonique de type 1 ou maladie de Steinert: Rapport de recherche dans le cadre du premier appel à projets de recherche 2012 Sciences humaines et sociales et maladies rares

Author

Hardy, A-C, Lecordier, D, Perrot, A, Péréon, Y, Nadaj-Pakleza, A, Magot, A, and Chasserieau, R

Abstract

Living habits for individuals suffering from a debilitating chronic disease are poorly known, yet essential for effective nursing care to be delivered in the long term. Myotonic dystrophy type 1 (DM1 or Steinert’s disease) is a particular chronic rare disease: it is genetic and progressive; it affects several functions and currently treatment for it is solely symptomatic. Amidst this complexity, it is relatively easy to cater for this clinical diversity in medical terms through multidisciplinary care, but it is more complicated object-side relationship. The objective of this qualitative study was to understand the change in living habits and the social determinants of coping strategies in men and women aged over 20 whose DM1 symptoms have appeared in adulthood. This is research in social sciences and nursing science based on a care issue and an ethno-sociological set of issue. The investigation has shown that patient’s behavior varies according to a set of combined determinants: age, social and professional situation, marital status, values and beliefs, living environment, and so on. Then, there is a large gap between medical representation of disease and day-to-day experience and social life of patients. The stations they passed during their life show various adaptation strategies. That gives us an opportunity to improve their support.

Published
2021

25. Des patients difficiles? Analyse qualitative des interactions médecins-patients dans le contexte de la maladie de Steinert

Author

Hardy, A-C, Lecordier, D, Perrot, A, and Péréon, Y

Abstract

La maladie de Steinert, ou DM1, est une maladie neuromusculaire, génétique et rare impliquant de nombreuses fonctions et incluant des troubles cognitifs. Ces derniers sont fréquemment invoqués par les médecins pour expliquer les problèmes rencontrés lors des consultations avec ces « patients difficiles ». Néanmoins, la qualification de ces troubles reste sujette à débats. La recherche ASHAM visait à mieux comprendre les habitudes de vie et les conditions de prise en charge des personnes atteintes, à partir d’une étude qualitative auprès de patients et soignants. L’article propose d’analyser quatre situations types de consultations problématiques, chacune mettant en scène un hiatus existant entre l’expérience de vie des patients et l’évaluation médicale de la maladie. Patients et soignants ne disent ni ne qualifient de la même manière la maladie, et cette explicitation permet de remettre en contexte la notion de « patient difficile » au profit d’une responsabilisation collective. [Myotonic dystrophy type 1 (MD1) is a rare neuromuscular genetic disease affecting several functions and leading to cognitive impairments. Physicians often use these symptoms to explain the problems they face with these “difficult patients.” However, the classification of these disorders remains open to debate. ASHAM research aims to understand the daily lives of people with DM1, and the circumstances of their care and support, based on a qualitative study with patients and health professionals. The article proposes to analyze four typical situations of problematic consultations, each of them showing a disparity between the real-life experience of patients and the physicians’ assessments. Patients and health professionals do not describe or classify the disease in the same way. This explanation allows the notion of the “difficult patient” to be contextualized in favor of collective accountability.]

Published
2021

26. CHANNELOPATHIES AND RELATED DISORDERS

Author

Vicart, S., primary, Franques, J., additional, Bouhour, F., additional, Magot, A., additional, Péréon, Y., additional, Sacconi, S., additional, Nadaj-Pakleza, A., additional, Behin, A., additional, Zahr, N., additional, Hezode, M., additional, Fournier, E., additional, Payan, C., additional, Lacomblez, L., additional, and Fontaine, B., additional

Published
2021
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27. Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials

Author

McDonald CM, A238., Sajeev, G, Yao, Z, Mcdonnell, E, Elfring, G, Souza, M, Peltz, Sw, Darras, Bt, Shieh, Pb, Cox, Da, Landry, J, Signorovitch, J, Campbell, C, Torricelli, Re, Finkel, Rs, Flanigan, Km, Goemans, N, Heydemann, P, Kaminska, A, Kirschner, J, Muntoni, F, Osorio, An, Schara, U, Sejersen, T, Sweeney, Hl, Topaloglu, H, Tulinius, M, Vilchez, Jj, Voit, T, Wong, B, Alfano, Ln, Eagle, M, James, Mk, Lowes, L, Mayhew, A, Mazzone, Es, Nelson, L, Rose, Kj, Abdel-Hamid, Hz, Apkon, Sd, Barohn, Rj, Bertini, E, Bloetzer, C, de Vaud LC, Butterfield, Rj, Chabrol, B, Chae, Jh, Jongno-Gu, Dr, Comi, Gp, Dastgir, J, Desguerre, I, Escobar, Rg, Finanger, E, Guglieri, M, Hughes, I, Iannaccone, St, Jones, Kj, Karachunski, P, Kudr, M, Lotze, T, Mah, Jk, Mathews, K, Nevo, Y, Parsons, J, Péréon, Y, de Queiroz Campos Araujo AP, Renfroe, Jb, de Mbd, R, Ryan, M, Selby, K, Tennekoon, G, Vita, G, Abdel-Hamid, H, Apkon, S, Barohn, R, Belousova, E, Brandsema, J, Bruno, C, Burnette, W, Butterfield, R, Byrne, B, Carlo, J, Chandratre, S, Comi, G, Connolly, A, De Groot, I, Deconinck, N, Dooley, J, Dubrovsky, A, Durigneux, J, Finkel, R, Frank, Lm, Harper, A, Hattori, A, Herguner, O, Iannaccone, S, Janas, J, Jong, Yj, Komaki, H, Kuntz, N, Lee, Wt, Leung, E, Mah, J, Cm, M, Mercuri, E, Mcmillan, H, Mueller-Felber, W, Lopez de Munain, A, Nakamura, A, Niks, E, Ogata, K, Pascual, S, Pegoraro, E, Pereon, Y, Renfroe, B, Sanka, Rb, Schallner, J, Sendra, Ii, Servais, L, Smith, E, Sparks, S, Victor, R, Wicklund, M, Wilichoswki, E, and Wong, B.

Subjects
Male, Duchenne muscular dystrophy, 0301 basic medicine, medicine.medical_specialty, Physiology, medicine.drug_class, Prednisolone, Anti-Inflammatory Agents, Walking, 030105 genetics & heredity, Placebo, prednisone/prednisolone, ambulatory function, deflazacort, meta-analysis, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Pregnenediones, Prednisone, Physiology (medical), Internal medicine, Humans, Multicenter Studies as Topic, Medicine, Child, Clinical Research Articles, Randomized Controlled Trials as Topic, Clinical Research Article, business.industry, medicine.disease, Confidence interval, Muscular Dystrophy, Duchenne, Deflazacort, Treatment Outcome, meta‐analysis, Ambulatory, Disease Progression, Corticosteroid, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
Abstract

Introduction In this study we characterized disease progression over 48 weeks among boys receiving deflazacort vs prednisone/prednisolone placebo arm treatment in two recent Duchenne muscular dystrophy (DMD) clinical trials. Methods Ambulatory boys with DMD receiving placebo in the phase 3 ataluren (N = 115) and tadalafil (N = 116) trials were included. The trials required at least 6 months of prior corticosteroid use and stable baseline dosing. Associations between corticosteroid use and 48‐week changes in ambulatory function were estimated using mixed models. Adjusted differences between corticosteroid groups were pooled in a meta‐analysis. Results In the meta‐analysis, deflazacort‐treated patients vs prednisone/prednisolone‐treated patients experienced, on average, lower declines of 28.3 meters on 6‐minute walk distance (95% confidence interval [CI], 5.7, 50.9; 2.9 seconds on rise from supine [95% CI, 0.9, 4.9 seconds]; 2.3 seconds on 4‐stair climb [95% CI, 0.5, 4.1 seconds]; and 2.9 [95% CI, 0.1, 5.8] points on the North Star Ambulatory Assessment linearized score). Discussion Deflazacort‐treated patients experienced significantly lower functional decline over 48 weeks.

Published
2019

30. Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Author

Ambegaonkar G, Evangelista T, Maura Coughlin, O’Donovan Dg, Mark A. Tarnopolsky, Tobias B. Haack, Sarah Ennis, Foley Ar, Shatillo A, Zaharieva It, Lornage X, Sato A, Sandra Donkervoort, Nelson I, Grimmel M, Salviati L, Francesco Muntoni, Bello L, Lauren Brady, James Shorter, Iida A, Böhm J, Maja Steinlin, Ana Töpf, Ichizo Nishino, Péréon Y, Quijano-Roy S, Carsten G. Bönnemann, Ogasawara M, Hu Y, Alice Flynn Ford, Klein A, Kevin J. O'Donovan, Raymond Fl, Kuster A, Marcorelles P, Adnan Y. Manzur, Buchert R, Charlotte M. Fare, Hammans, Romero Nb, Munot P, Bertolin C, Upstill-Goddard R, Mercier S, Stojkovic T, Thomas E. Lloyd, Fleurence E, Lin Guo, Courtney E. French, Phadke R, Laporte J, Taylor Jp, Payam Mohassel, Straub, Elena Pegoraro, Hong Joo Kim, and Foulds N

Subjects
Genetics, medicine, Missense mutation, Muscular dystrophy, Amyotrophic lateral sclerosis, medicine.symptom, Biology, medicine.disease, Myopathy, Phenotype, Frameshift mutation, Frontotemporal dementia, Oculopharyngeal muscular dystrophy
Abstract

SummaryRNA-binding proteins (RBPs) are essential for post-transcriptional regulation and processing of RNAs. Pathogenic missense variants in RBPs underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, inclusion body myopathy, distal myopathy, and Paget’s disease of the bone. Here, we present ten independent families with a severe, progressive, early-onset muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD), caused by heterozygous frameshift variants in the prion-like domain of hnRNPA2B1. We found that in contrast with the previously reported missense variants, the frameshift hnRNPA2B1 variants do not promote, but rather decelerate the fibrillization of the protein. Importantly, the frameshift variants harbor altered nuclear-localization sequences and exhibit reduced affinity for the nuclear-import receptor, Karyopherin-β2, which promotes their cytoplasmic accumulation in cells and in animal models that recapitulate the human pathology. Thus, we expand the phenotypes associated with hnRNPA2B1 to include a severe, early-onset disease reminiscent of OPMD, caused by a distinct class of frameshift variants that alter its nucleocytoplasmic transport dynamics.

Published
2021

31. Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease

Author

Breza, M. Hirst, J. Chelban, V. Banneau, G. Tissier, L. Kol, B. Bourinaris, T. Said, S.A. Péréon, Y. Heinzmann, A. Debs, R. Juntas-Morales, R. Martinez, V.G. Camdessanche, J.P. Scherer-Gagou, C. Zola, J.-M. Athanasiou-Fragkouli, A. Efthymiou, S. Vavougios, G. Velonakis, G. Stamelou, M. Tzartos, J. Potagas, C. Zambelis, T. Mariotti, C. Blackstone, C. Vandrovcova, J. Mavridis, T. Kartanou, C. Stefanis, L. Wood, N. Karadima, G. LeGuern, E. Koutsis, G. Houlden, H. Stevanin, G.

Published
2021

32. Intravenous immunoglobulin treatment for mild Guillain-Barré syndrome. An international observational study

Author

Verboon, C., Harbo, T., Cornblath, D. R., Hughes, R. A. C., Van Doorn, P. A., Lunn, M. P., Gorson, K. C., Barroso, F., Kuwabara, S., Galassi, G., Lehmann, H. C., Kusunoki, S., Reisin, R. C., Binda, D., Cavaletti, G., Andersen, Jacobs B. C. H., PhD (Aarhus University Hospital, Aarhus, Denmark), Attarian, S., PhD (CHU Timone, Marseille, France), Badrising, U. A., PhD (Leiden University Medical Centre, Leiden, The, Netherlands), Bateman, K., PhD (Groote Schuur Hospital, Cape, Town, South-Africa), Benedetti, L., PhD (Ospedale Sant’ Andrea La Spezia, Spezia, La, Italy), van den Berg, B., MD (Franciscus Gasthuis, Rotterdam, Van den Bergh, P., Luc, PhD (University Clinic St., Leuven, Belgium), Bertorini, T. E., MD (The University of Tennessee Health Science Center (UTHSC), Memphis, USA), Bhavaraju-Sanka, R., MD (University Hospital/ University of Texas Health Science Center, San Antonio Texas, USA), Bianco (Milan University, M., Humanitas Clinicala and Research Institute Milan, Briani, C., MD (University of Padova, Padova, Italy), Bürmann, J., MD (Universitätsklinikum des Saarlandes, Homburg, Germany), Casasnovas, C., Ciberer, PhD (Bellvitge University Hospital - IDIBELL Neurometabolic Diseases Group., Barcelona, Spain), Chao, C. C., PhD (National Taiwan University Hospital, Taipei, Taiwan), Chavada, G., PhD (Glasgow University, Glasgow, UK), Claeys, K. G., University Hospitals Leuven, PhD (1., Leuven, Belgium, KU Leuven, 2., Cosgrove, J. S., MD (Leeds General Infirmary, Leeds, UK), Dalakas, M. C., Thomas Jefferson University, MD (1., Philadelphia, Usa, National and Kapodistrian University of Athens, 2., Athens, Greece), Davidson, A., MD (University of Glasgow, van Dijk, G. W., MD (Canisius Wilhelmina Hospital, Nijmegen, Dardiotis, E., MD (University of Thessaly, Hospital of Larissa, Larissa, Greece), Derejko, M., MD (Odense University Hospital, Odense, Denmark), Dimachkie, M. M., MD (University of Kansas Medical Center, Kansas, City, Dornonville de la Cour, C., MD (National Hospital Copenhagen, Copenhagen, Denmark), Echaniz-Laguna, A., MD (Bicêtre University Hospital, Paris, France), Eftimov, F., PhD (Amsterdam University Medical Centre, Amsterdam, Faber, C. G., PhD (Maastricht University Medical Centre, Maastricht, Fazio, R., MD (Scientific Institute San Raffaele, Milan, Italy), Fulgenzi, J. Fehmi (University of Oxford E. A., MD (Hospital Cesar Milstein Buenos Aires, Buenos, Aires, Argentina), García-Sobrino, T., MD (Hospital Clínico de Santiago, Santiago de Compostela (A Coruña), Spain), Gijsbers, C. J., MD (Vlietland Hospital, Schiedam, Granit, V., MD (Montefiore Medical, Center, New, York, Grisanti, S., MD (Ospedale Sant’ Andrea La Spezia, Gutiérrez-Gutiérrez, G., MD (Hospital Universitario Infanta Sofia, San, Sebastian, Holbech, J. V., PhD (Odense University Hospital, Holt, J. K. L., Phd, FRCP (The Walton Centre, Liverpool, UK), Homedes, C., Ciberer, MD (Bellvitge University Hospital - IDIBELL Neurometabolic Diseases Group., Islam, B., PhD (International Centre for Diarrhoeal Disease Research, Bangladesh, (icddr, Dhaka, b), Bangladesh), Islam, Z., Jahan, I., PhD candidate (International Centre for Diarrhoeal Disease Research, Jericó Pascual, I., PhD (Complejo Hospitalario de Navarra, Pamplona, Spain), Karafiath, S., MD (University of Utah School of Medicine, Salt Lake City, Kerkhoff, H., PhD (Albert Schweitzer Hospital, Dordrecht, Kimpinski, K., MD (University Hospital, Lhsc, London-Ontario, Canada), Kohler, A., MD (Instituto de Investigaciones Neurológicas Raúl Carrea, Fleni, Kolb, N., MD (University of Vermont, Burlington, Vt, Kuitwaard, K., Albert Schweitzer Hospital, PhD (1., Erasmus MC, 2., Kuwahara, M., PhD (Kindai University, Osaka, Japan), Ladha, S. S., MD (Barrow Neurology Clinics, Phoenix, Arizona, Lee Pan, E., MBChB (Groote Schuur Hospital, Marfia, G. A., MD (Neurological Clinic, Policlinico Tor Vergata, Rome, Italy), Magot, A., MD (Reference Centre for NMD, Nantes University Hospital, France), Márquez Infante, C., MD (Hospital Universitario Virgen del Rocio, Seville, Spain), Martín-Aguilar, L., MD (Hospital de la Santa Creu, i Sant Pau, Universitat Autònoma de Barcelona, Martinez Hernandez, E., MD (Institut d’Investigacions Biomèdiques August Pi, i Sunyer (IDIBAPS), Hospital, Clinic, Mataluni, G., PhD (Neurological Clinic, Meekins, G., MD (University of Minnesota, Miller, J. A. L., PhD (Royal Victoria Infirmary, Newcastle, UK), Monges, M. S., Garrahan, MD (Hospital de Pediatría J. P., Nobile Orazio, E., PhD (Milan University, Pardal, A., MD (Hospital Britanico, Pardo Fernandez (Hospital Clínico de Santiago, J., Péréon, Y., PhD (Reference Centre for NMD, Pulley, M., MD (University of Florida, Jacksonville, USA), Querol Gutierrez, L., PhD (Hospital de la Santa Creu, i Sant Pau, Reddel, S. W., PhD (Concord Repatriation General Hospital, Sydney, Australia), van der Ree, T., (Westfriesgasthuis, Md, Hoorn, Rinaldi, S., Mbchb, Samijn, PhD (University of Oxford J. P. A., MD (Maasstad Hospital, Samukawa, M., Santoro, L., PhD (University Federico II, Napels, Italy), Savransky, A., Garrahan, PhD (Hospital de Pediatría J. P., Schwindling, L., Sedano Tous, M. J., MD (Hospital Universitario Marques de Valdecilla, Santander, Cantabria, Sekiguchi, Y., PhD (Chiba University, Chiba, Japan), Shahrizaila, N., MD (Neurology Unit, Department of Medicine, Faculty of Medicine, University of Malaya, Malaya), Silvestri, N. J., Sindrup, MD (Buffalo Jacobs School of Medicine S., Sommer, C. L., MD (Universitätsklinikum Würzburg, Würzburg, Germany), Spyropoulos (Royal Victoria Infirmary, A., Stein, B., Joseph’s Regional Medical Center, MD (St., Paterson, USA), Tan, C. Y., MRCP (Neurology Unit, Tankisi, H., Vermeij, F., Vytopil, M. V., Wirtz, PhD (Tufts University School of Medicine Lahey Hospital P. W., Phd, (HagaZiekenhuis, The, Hague, Waheed, W., MD (University of Vermont Medical Center, Burlington, Addington, USA). Other collaborators were:J. M., MD (University of Virginia, Charlottesville, USA), Ajroud-Driss, S., MD (Northwestern University Feinberg, Chicago, USA), Antonini, G., MD (Mental Health and Sensory Organs (NESMOS), Sapienza, University, Sant’Andrea, Hospital, Bella, I. R., MD (University of Mass Medical School, Worcester, USA), Brannagan, T. H., MD (Columbia University, New York City, Bunschoten, C., PhD candidate (Erasmus University Medical Centre, Busby, M., Bradford, UK), Butterworth, S., MD (Pinderfields Hospital, Wakefield, UK), Conti, M. E., MD (University Hospital Clinicas, Chen, S., Phd, (Rutgers, Robert Wood Johnson University Hospital, New, Brunswick, Doets, A., Feasby, T. E., MD (University of Calgary, Calgary, Canada), Fokke, C., MD (Gelre Hospital, Zutphen and Apeldoorn, Fujioka, T., MD (Toho University Medical Center, Tokyo, Japan), Garssen, M. P. J., PhD (Jeroen Bosch Hospital, Hertogenbosch, ’S, Gilchrist, J. M., MD (Soulthern Illinois University School of Medicine, Springfield, USA), Gilhuis, J., PhD (Reinier de Graaf Gasthuis, Delft, Goldstein, J. M., MD (Yale University School of Medicine, New, Haven, Goyal, N. A., MD (University of California, Irvine, USA), Hadden, R. D. M., PhD (King’s College Hospital, London, UK), Hsieh, S. T., Htut, M., George’s Hospital, MD (St., Illa, I., Jellema, K., PhD (Haaglanden Medisch Centrum, Kaida, K., PhD (National Defense Medical College, Saitama, Japan), Katzberg, H. D., MD (University of Toronto, Toronto, Canada), Kiers, L., MD (University of Melbourne, Royal Melbourne Hospital, Parkville, Australia), Kokubun, N., MD (Dokkyo Medical University, Tochigi, Japan), van Koningsveld, R., PhD (Elkerliek Hospital, Helmond and Deurne, van der Kooi, A. J., Kwan, J. Y., MD (University of Maryland School of Medicine, Baltimore, USA), Landschoff Lassen, L., MD (Glostrup Hospital, Glostrup, Denmark), Lawson, V., MD (Wexner Medical Center at The Ohio State University, Columbus, USA), Leonhard, S. E., Mandarakas, M., PhD (Erasmus University Medical Centre, Manji, H., FRCP (Ipswich Hospital, Ipswich, UK), Mattiazzi, M. G., MD (Hospital Militar Central, Mcdermott, C. J., MD (Royal Hallamshire Hospital, Nihr, Clinical, Sheffield, UK), Mohammad, Q. D., PhD (National Institute of Neurosciences and Hospital, Dhaka, Bangladesh), Morís de la Tassa, G., MD (Hospital UniversitarioCentral de Asturias, Asturias, Spain), Nascimbene, C., PhD (Luigi Sacco Hospital, Niks, E. H., Nowak, R. J., Osei-Bonsu, M., PhD (James Cook University Hospital, Middlesbrough, UK), Pascuzzi, R. M., MD (University of Indiana School of Medicine, Indianapolis, USA), Roberts, R. C., MD (Addenbrooke’s Hospital Cambridge, Cambridge, UK), Rojas-Marcos, I., MD (Hospital Univesitario Reina Sofia, Cordoba, Spain), Roodbol, J., Rudnicki, S. A., MD (University of Arkansas, Fayetteville, USA), Sachs, G. M., MD (University of Rhode Island, Providence, USA), Schenone, A., Department of Neurosciences, PhD (1., Rehabilitation, Ophthalmology, Genetics and Maternal and Infantile Sciences (DINOGMI), University of Genova, Genova, IRCCS Policlinico San Martino, Italy 2., Genova, Italy), Sheikh, K., PhD (The University of Texas Health Science Center at Houston, Houston, USA), Twydell, P., DO (Spectrum Health System, Grand, Rapids, Van Damme, P., PhD (University Hospital Leuven, Varrato, J. D., DO (Lehigh Valley Health Network, Allentown, USA), Visser, L. H., PhD (Elisabeth-TweeSteden Hospital, Tilburg and Waalwijk, Willison, H. J., PhD (University of Glasgow, van Woerkom (Erasmus MC, M., Zhou, L., PhD (Icahn School, Verboon, C, Harbo, T, Cornblath, D, Hughes, R, Van Doorn, P, Lunn, M, Gorson, K, Barroso, F, Kuwabara, S, Galassi, G, Lehmann, H, Kusunoki, S, Reisin, R, Binda, D, Cavaletti, G, Jacobs, B, consortium, IGOS, consortium, GOS, Neurosurgery, Neurology, and Immunology

Subjects
Adult, Male, medicine.medical_specialty, intravenous immunoglobulins, DIAGNOSIS, Guillain-Barre Syndrome, Settore MED/26, DISEASE, Disease course, Disability Evaluation, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, hemic and lymphatic diseases, Internal medicine, Clinical endpoint, medicine, Humans, In patient, guillain-barré syndrome, 030212 general & internal medicine, NEUROPATHIES, biology, Guillain-Barre syndrome, business.industry, Guillain-Barré syndrome (GBS), treatment, course, Confounding, Immunoglobulins, Intravenous, Middle Aged, medicine.disease, Confidence interval, Psychiatry and Mental health, Treatment Outcome, biology.protein, Female, Surgery, Observational study, Neurology (clinical), Antibody, business, 030217 neurology & neurosurgery
Abstract

ObjectiveTo compare the disease course in patients with mild Guillain-Barré syndrome (GBS) who were treated with intravenous immunoglobulin (IVIg) or supportive care only.MethodsWe selected patients from the prospective observational International GBS Outcome Study (IGOS) who were able to walk independently at study entry (mild GBS), treated with one IVIg course or supportive care. The primary endpoint was the GBS disability score four weeks after study entry, assessed by multivariable ordinal regression analysis.ResultsOf 188 eligible patients, 148 (79%) were treated with IVIg and 40 (21%) with supportive care. The IVIg group was more disabled at baseline. IVIg treatment was not associated with lower GBS disability scores at 4 weeks (adjusted OR (aOR) 1.62, 95% CI 0.63 to 4.13). Nearly all secondary endpoints showed no benefit from IVIg, although the time to regain full muscle strength was shorter (28 vs 56 days, p=0.03) and reported pain at 26 weeks was lower (n=26/121, 22% vs n=12/30, 40%, p=0.04) in the IVIg treated patients. In the subanalysis with persistent mild GBS in the first 2 weeks, the aOR for a lower GBS disability score at 4 weeks was 2.32 (95% CI 0.76 to 7.13). At 1 year, 40% of all patients had residual symptoms.ConclusionIn patients with mild GBS, one course of IVIg did not improve the overall disease course. The certainty of this conclusion is limited by confounding factors, selection bias and wide confidence limits. Residual symptoms were often present after one year, indicating the need for better treatments in mild GBS.

Published
2021

35. Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry

Author

Semplicini, C., de Antonio, M., Taouagh, N., Béhin, A., Bouhour, F., Echaniz-Laguna, A., Magot, A., Nadaj-Pakleza, A., Orlikowski, D., Sacconi, S., Salort-Campana, E., Solé, G., Tard, Celine, Zagnoli, F., Jean-Yves, H., Hamroun, D., Laforêt, P., Attarian, S., Aubé-Nathier, A. C., Arrassi, A., Bassez, G., Bedat-Millet, A. L., Bouibede, F., Boyer, F. C., Caillaud, C., Canal, A., Carlier, R. Y., Chanson, J. B., Chapon, F., Cintas, P., Deibener-Kaminsky, J., Demurger, F., Desnuelle, C., Durieu, I., Eymard, B., Feasson, L., Fournier, M., Froissart, R., Furby, A., Garcia, P. Y., Germain, D. P., Ghorab, K., Morales, R. J., Krim, E., Labauge, P., Lacour, A., Lagrange, E., Lefeuvre, C., Leguy-Seguin, V., Leonard-Louis, S., Magy, L., Masseau, A., Michaud, M., Minot-Myhié, M. C., Nicolas, G., Nollet, S., Not, A., Noury, J. B., Ollivier, G., Péréon, Y., Perez, Thierry, Perniconi, B., Piraud, M., Petiot, P., Pouget, J., Praline, J., Prigent, H., Renard, D., Spinazzi, M., Stojkovic, T., Taithe, F., Tiffreau, Vincent, Vincent, D., Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 (URePSSS), and Université d'Artois (UA)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Registry, alglucosidase alfa, Adolescent, [SDV]Life Sciences [q-bio], Walk Test, Disease, Sitting, 03 medical and health sciences, FEV1/FVC ratio, Young Adult, Glycogen storage disease type II, Genetics, medicine, Humans, Respiratory function, Prospective Studies, Registries, Child, Alglucosidase alfa, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, late onset Pompe disease, business.industry, 030305 genetics & heredity, alpha-Glucosidases, Enzyme replacement therapy, Middle Aged, medicine.disease, Respiratory Function Tests, Treatment Outcome, Ceiling effect, Female, France, business, medicine.drug, enzyme replacement therapy
Abstract

Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stabilization of respiratory function, but the majority of these studies were less than 5 years of duration. We report here the findings from 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests (6-minute walking test, MFM scale, sitting vital capacity, MIP and MEP). For longitudinal analyses, the linear mixed effects models were used to assess trends in primary endpoints over time under ERT. A two-phase model better described the changes in distance traveled in the 6-minute walk test and MFM. 6MWT showed an initial significant increase (1.4% ± 0.5/year) followed by a progressive decline (-2.3%/year), with a cut-off point at 2.2 years. A similar pattern was observed in total MFM score (6.6% ± 2.3/year followed by a - 1.1%/year decline after 0.5 years). A single-phase decline with a slope of -0.9 ± 0.1%/year (P < .001) was observed for FVC, and MEP remained stable over the all duration of follow-up. This study provides further evidence that ERT improves walking abilities and likely stabilizes respiratory function in adult patients with Pompe disease, with a ceiling effect for the 6MWT in the first 3 years of treatment.

Published
2020

37. International Guillain-Barré Syndrome Outcome Study

Author

Jacobs, B, van den Berg, B, Verboon, C, Chavada, G, Cornblath, D, Gorson, K, Harbo, T, Hartung, H, Hughes, R, Kusunoki, S, van Doorn, P, Willison, H, Consortium, I, van Woerkom, M, Roodbol, J, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, van den Bergh, P, Feasby, T, Wang, Y, Péréon, Y, Lehmann, H, Dardiotis, E, Nobile Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, S, Davidson, A, Addington, J, Ajroud Driss, S, Andersen, H, Antonini, G, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bürmann, J, Bella, I, Bertorini, T, Bhavaraju Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Campagnolo, M, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Cohen, J, Conti, M, Cosgrove, J, Dalakas, M, Dimachkie, M, Dillmann, U, Domínguez González, C, Doppler, K, Dornonville de la Cour, C, Echaniz Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Galassi, G, Garcia, T, Garnero, M, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, H, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutiérrez Gutiérrez, G, Gutmann, L, Hadden, R, Holbech, J, Holt, J, Homedes Pedret, C, Htut, M, Jellema, K, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Luciano, C, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, Ga, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Monges, M, Montero, M, Morís de la Tassa, G, Nascimbene, C, Neumann, C, Nowak, R, Orizaola Balaguer, P, Osei Bonsu, M, Pan, E, Pardo Fernandez, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas Marcos, I, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Saperstein, D, Savransky, A, Schneider, H, Schenone, A, Sedano Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Suzuki, H, Taylor, S, Tankisi, H, Tigner, D, Twydell, P, Valzania, F, van Damme, P, van der Kooi, A, van Dijk, G, van der Ree, T, van Koningsveld, R, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Yiu, E, Zhou, L, Zivkovic, S, Immunology, Neurology, Jacobs, B, van den Berg, B, Verboon, C, Chavada, G, Cornblath, D, Gorson, K, Harbo, T, Hartung, H, Hughes, R, Kusunoki, S, van Doorn, P, Willison, H, van Woerkom, M, Roodbol, J, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, van den Bergh, P, Feasby, T, Wang, Y, Pã©rã©on, Y, Lehmann, H, Dardiotis, E, Nobile Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, S, Davidson, A, Addington, J, Ajroud Driss, S, Andersen, H, Antonini, G, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bã¼rmann, J, Bella, I, Bertorini, T, Bhavaraju Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Campagnolo, M, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Cohen, J, Conti, M, Cosgrove, J, Dalakas, M, Dimachkie, M, Dillmann, U, Domínguez González, C, Doppler, K, Dornonville de la Cour, C, Echaniz Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Galassi, G, Garcia, T, Garnero, M, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, H, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutiérrez Gutiérrez, G, Gutmann, L, Hadden, R, Holbech, J, Holt, J, Homedes Pedret, C, Htut, M, Jellema, K, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Luciano, C, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, G, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Monges, M, Montero, M, Morís de la Tassa, G, Nascimbene, C, Neumann, C, Nowak, R, Orizaola Balaguer, P, Osei Bonsu, M, Pan, E, Pardo Fernandez, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas Marcos, I, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Saperstein, D, Savransky, A, Schneider, H, Schenone, A, Sedano Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Suzuki, H, Taylor, S, Tankisi, H, Tigner, D, Twydell, P, Valzania, F, van Damme, P, van der Kooi, A, van Dijk, G, van der Ree, T, van Koningsveld, R, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Yiu, E, Zhou, L, Zivkovic, S, Rehabilitation medicine, Internal medicine, and ANS - Neuroinfection & -inflammation

Subjects
Male, Pediatrics, PROGNOSIS, diagnosis, International Cooperation, Guillain-Barré syndrome, biomarkers, outcome, prognosis, treatment, Guillain-Barre syndrome, Guillain-Barré syndrome, Neuroscience (all), Neurology (clinical), Cohort Studies, 0302 clinical medicine, Epidemiology, Outcome Assessment, Health Care, INFECTION, CRITERIA, 030212 general & internal medicine, General Neuroscience, Biobank, Observational Studies as Topic, diagnosi, Disease Progression, biomarker, Female, Settore MED/26 - Neurologia, medicine.symptom, prognosi, Cohort study, medicine.medical_specialty, Weakness, Guillain-Barre Syndrome, CLASSIFICATION, VALIDATION, 03 medical and health sciences, medicine, Humans, INTRAVENOUS IMMUNOGLOBULIN, Protocol (science), business.industry, Polyradiculoneuropathy, medicine.disease, ANTIBODIES, Observational study, business, COLLECTION, 030217 neurology & neurosurgery
Abstract

Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multicenter cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here. Patients fulfilling the diagnostic criteria for GBS, regardless of age, disease severity, variant forms, or treatment, can participate if included within 2 weeks after onset of weakness. Information about demography, preceding infections, clinical features, diagnostic findings, treatment, course, and outcome is collected. In addition, cerebrospinal fluid and serial blood samples for serum and DNA is collected at standard time points. The original aim was to include at least 1,000 patients with a follow-up of 1-3 years. Data are collected via a web-based data entry system and stored anonymously. IGOS started in May 2012 and by January 2017 included more than 1,400 participants from 143 active centers in 19 countries across 5 continents. The IGOS data/biobank is available for research projects conducted by expertise groups focusing on specific topics including epidemiology, diagnostic criteria, clinimetrics, electrophysiology, antecedent events, antibodies, genetics, prognostic modeling, treatment effects, and long-term outcome of GBS. The IGOS will help to standardize the international collection of data and biosamples for future research of GBS.

Published
2017

42. Treatment with Ataluren for Duchene Muscular Dystrophy

Author

Mercuri, E, Muntoni, F, Osorio, An, Tulinius, M, Buccella, F, Morgenroth, Lp, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, J, Kristensen, A, Santos, Cl, Henricson, Ek, Mcdonald, Cm, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintovà, Z, Danhofer, P, Fabulovà, P, Jurıkovà, L, Fuchsovà, P, Haberlovà, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Péréon, Y, Cuisset, J-M, Coopman-Degryse, S, Enaud, E, Jacquemont, M-L, Perville, A, Renouil, M, Trommsdorff, V, Verheulpen, D, Fontaine-Carbonnel, S, Vuillerot, C, Peudenier, S, Ropars, J, Audic, F, Chabrol, B, Chabrier, S, Gousse, G, Lagrue, E, Aragon, K, Barnerias, C, Brande, Lv, De Lucia, S, Gidaro, T, Seferian, A, Servais, L, Laugel, V, Espil-Taris, C, Mecili, H, Raffo, E, Ragot-Mandry, S, Borrell, S, Kirschner, J, Gangfuss, A, Henrich, M, Kolbel, H, Schara, U, Sponemann, N, Temme, E, Seeger, J, Hirsch, A, Denecke, J, Johannsen, J, Neu, A, Osinski, D, Rugner, S, Schussler, S, Trollmann, R, Kaindl, A, Schneider, Jb, Stoltenburg, C, Weiss, C, Schreiber, G, Hahn, A, Grzybowski, M, Pavlidou, E, Pavlou, E, Dobner, S, Liptai, Z, Dor, T, Brogna, C, Catteruccia, M, D’Amico, A, Pane, E, Bello, L, Pegoraro, E, Semplicini, C, Albamonte, E, Baranello, G, Comi, G, Govoni, A, Lerario, A, Magri, F, Masson, R, Mauri, E, Sansone, V, Brusa, C, Mongini, T, Ricci, F, Vacchetti, M, Bruno, C, Paniucci, C, Pedemonte, M, Giannotta, M, Pini, A, Messina, S, Sframeli, M, Vita, Gl, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, Hughes, I, Childs, A-M, Alhaswani, Z, Roper, H, Parasuraman, D, Degoede, C, Gowda, V, Manzur, A, Munot, P, Sarkokzy, A, Charlesworth, C, Lemon, J, Turner, L, Spinty, S, Dubrovsky, A, Kornberg, A, Ryan, M, Webster, R, Biggar, Wd, Mcadam, Lc, Mah, Jh, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, Rt, Joyce, Nc, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, Pr, Abdel-Hamid, H, Connolly, Am, Pestronk, A, Teasley, J, Harper, A, Bertorini, Te, Kuntz, N, Driscoll, S, Day, Jw, Karachunski, P, and Lotze, T.

Subjects
safety, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Duchenne muscular dystrophy, Neurosurgery, STRIDE, effectiveness, Duchenne Muscular Dystrophy, Pediatrics, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Child Development, STRIDE Registry, International database, Internal medicine, medicine, Humans, In patient, Registries, Child, 030304 developmental biology, Pediatric, 0303 health sciences, Brain Diseases, Oxadiazoles, business.industry, Health Policy, Disease progression, Infant, ataluren, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Treatment Outcome, chemistry, Neurology, Muscle Disorders, Codon, Nonsense, Neuromuscular, Propensity score matching, dystrophin, Nervous System Diseases, business, 030217 neurology & neurosurgery, Natural history study, Research Article
Abstract

Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype–phenotype/–ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan–Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p ≤ 0.05). There were no DMD genotype–phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.

Published
2020

47. 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

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