Article
Medicine, General & Internal
Mohammed K. Alhaidar, Sumayyah Abumurad, Betty Soliven, Kourosh Rezania
Summary: This review summarizes the current treatment options for myasthenia gravis (MG), including immunosuppressive and non-immunosuppressive treatments, as well as thymectomy and targeted immunomodulatory drugs.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Neurosciences
Natalie K. Katz, Richard J. Barohn
Summary: The discovery of the beneficial effects of acetylcholinesterase inhibitors for the treatment of myasthenia gravis was made through a young physician's observation and trial with physostigmine in 1935. This marked the beginning of using acetylcholinesterase inhibitors to improve symptoms in patients with MG.
Article
Medicine, General & Internal
Do-Hyung Kim, Hyeon Cheol Roh, Shin Yeop Oh
Summary: This study investigated the clinical features of ocular myasthenia gravis (OMG) in ophthalmology. A total of 28 patients with ptosis or diplopia were included and analyzed. The patients were divided into two groups based on test results and compared according to clinical symptoms. It was found that ptosis and diplopia were significantly higher in the positive results group, and both horizontal and vertical diplopia were significantly higher in patients with higher AchR Ab titer. The study suggests considering OMG when patients present with ptosis and diplopia, especially vertical diplopia, after excluding cranial nerve palsy.
Article
Multidisciplinary Sciences
Giovanni Antonini, Francesco Habetswallner, Maurizio Inghilleri, Renato Mantegazza, Carmelo Rodolico, Francesco Sacca, Manlio Sgarzi, Femke deRuyck, Sandra Paci, Glenn Phillips, Laura Crippa, Chiara Veronesi, Valentina Perrone, Luca Degli Esposti
Summary: The purpose of this study was to investigate the epidemiology, management, and economic burden of myasthenia gravis in real clinical practice. The estimated prevalence of myasthenia gravis in Italy during 2018 was in the range of 13.5-29.3/100,000 people, with a large number of patients using pyridostigmine and corticosteroids for treatment. The total healthcare costs for myasthenia gravis were significantly higher than those of the general population, especially for patients with exacerbation.
Article
Medicine, General & Internal
Hyuna Kim, Shin Yeop Oh
Summary: This study investigated the clinical features and diagnosis process of ocular myasthenia gravis (OMG) in an ophthalmology department. Patients were divided into two groups based on serologic test results for comparison. The study found that patients with two clinical symptoms had significantly higher AchR Ab titers than those with only one clinical symptom.
Article
Public, Environmental & Occupational Health
Ewa Sobieszczuk, Lukasz Napiorkowski, Piotr Szczudlik, Anna Kostera-Pruszczyk
Summary: The study conducted in Poland for the first time looked into the epidemiology of Myasthenia gravis (MG) using data from the National Health Fund (NFZ) database. Results showed that as of January 1, 2019, there were 8,702 MG patients receiving symptomatic treatment, with a female to male ratio of 1.65:1. The incidence of MG was 2.36 per 100,000, with different age groups showing variations in prevalence and onset of the disease. This information can be valuable for evaluating healthcare resources needed for MG patients.
Review
Clinical Neurology
Ana Vesperinas-Castro, Elena Cortes-Vicente
Summary: This article reviews the use of rituximab in the treatment of myasthenia gravis and summarizes the current evidence regarding its effectiveness, administration protocols, monitoring strategies, and safety profile for different subtypes of the disease.
FRONTIERS IN NEUROLOGY
(2023)
Review
Biology
Agnieszka Antos, Anna Czlonkowska, Jan Bembenek, Iwona Kurkowska-Jastrzebska, Tomasz Litwin
Summary: Wilson's disease is a genetic disorder that causes copper accumulation in various tissues, leading to clinical symptoms. D-penicillamine (DPA) is a commonly used drug in its treatment, but it can also induce myasthenia gravis (MG). This case report discusses a patient with WD who developed symptoms of MG after 15 months of DPA treatment.
Review
Clinical Neurology
Henry J. Kaminski, Jordan Denk
Summary: Chronic high-dose oral prednisone has been the main treatment for myasthenia gravis, but it is not effective for some patients due to various reasons. The lack of predictive factors for treatment response and limited correlation to biological measures make it difficult to assess the effectiveness of the treatment. This review aims to explore the potential mechanisms underlying the lack of response to glucocorticoids in patients with myasthenia gravis.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Nils Erik Gilhus
Summary: This review discusses the pharmacological treatment options for myasthenia gravis (MG) in reproductive age patients and provides recommendations. It also explores the consequences for pregnancy, giving birth, breastfeeding, and child outcome. According to expert opinion, pyridostigmine, low-dose corticosteroids, and azathioprine are considered safe during pregnancy and should be continued. However, mycophenolate mofetil, methotrexate, and cyclophosphamide should be avoided. Rituximab should not be given during pregnancy. Other monoclonal IgG antibodies should only be used when strictly necessary. Intravenous and subcutaneous immunoglobulin and plasma exchange are safe treatments during pregnancy and recommended for exacerbations with moderate or severe generalized weakness. Most MG women have spontaneous vaginal deliveries and indications for Cesarean section are similar to non-MG women. Neonatal myasthenia is transient and affects 10% of babies born to mothers with MG. It is important to support MG women in their desire to have children.
EXPERT REVIEW OF NEUROTHERAPEUTICS
(2023)
Article
Clinical Neurology
Jingwen Yan, Minhui Yang, Michael Ke Li, Yangyu Huang, Ying Tan, Jiayu Shi, Qianqian Fan, Zhu Zhu, Yuzhou Guan, Liying Cui
Summary: This study evaluated the efficacy and safety of non-benzodiazepine hypnotics in treating insomnia in patients with myasthenia gravis. The results showed that non-benzodiazepine hypnotics were effective in reducing insomnia symptoms and were safe for use in these patients.
FRONTIERS IN NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Patricia Sikorski, Yaoxiang Li, Mehar Cheema, Gil I. Wolfe, Linda L. Kusner, Inmaculada Aban, Henry J. Kaminski
Summary: The study identified that high levels of phospholipids in serum were associated with treatment response in MG patients. It also found a panel of markers including histidine, free fatty acid, gamma-cholestenol, and guanosine that were highly predictive of treatment response. Pathway analysis suggested that xenobiotic metabolism may play a major role in treatment resistance, and individual variation in prednisone metabolism could impact treatment efficacy.
Review
Clinical Neurology
Fiammetta Vanoli, Renato Mantegazza
Summary: Myasthenia Gravis (MG) is a rare neurological disorder affecting the neuromuscular junction. The development of new drugs focusing on more targeted effects with higher safety and efficacy profiles is rapidly expanding, responding to the unmet need for a more effective therapeutic approach in MG.
CURRENT OPINION IN NEUROLOGY
(2023)
Review
Medicine, General & Internal
Rossen T. Rousseff
Summary: The diagnosis of autoimmune Myasthenia Gravis relies on clinical history and physical examination, with additional tests and laboratory methods used to confirm the diagnosis and assess treatment effectiveness. Various tests are recommended for the diagnosis and follow-up of MG.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Christian W. Keller, Marc Pawlitzki, Heinz Wiendl, Jan D. Luenemann
Summary: Myasthenia gravis is an autoimmune disease where antibodies bind to acetylcholine receptors, leading to disease progression. Therapeutic platforms targeting IgG Fc show promise in reducing the effects of pathogenic antibodies and may lead to more personalized immunotherapies for MG patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
E. Huertas-Hoyas, R. M. Martinez-Piedrola, P. Sanchez-Herrera-Baeza, S. Serrada Tejeda, N. Maximo-Bocanegra, C. Sanchez Camarero, M. Perez-de-Heredia-Torres, J. C. Martinez Castrillo
Summary: This study describes the manipulative dexterity and its impact on activities of daily living in patients with focal hand dystonia. Evaluation tests showed that patients had poorer performance and required more time to complete tasks.
Letter
Clinical Neurology
Andreas Meisel, Fulvio Baggi, Anthony Behin, Amelia Evoli, Anna Kostera-Pruszczyk, Renato Mantegazza, Raul Juntas Morales, Anna Rostedt Punga, Sabrina Sacconi, Michael Schroeter, Jan Verschuuren, Louise Crathorne, Kris Holmes, Maria-Isabel Leite
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Christos Stergiou, Rhys Williams, Jennifer R. R. Fleming, Vasiliki Zouvelou, Elpinickie Ninou, Francesca Andreetta, Elena Rinaldi, Ornella Simoncini, Renato Mantegazza, Julius Bogomolovas, John Tzartos, Siegfried Labeit, Olga Mayans, Socrates Tzartos
Summary: Myasthenia gravis is an autoimmune disease caused by antibodies targeting the neuromuscular junction of skeletal muscles. The major autoantigen is nicotinic acetylcholine receptor. Thymus and thymoma play critical roles in the mechanisms and management of the disease. This study focused on the localization of titin epitopes to develop more specific anti-titin diagnostics.
Article
Clinical Neurology
Lynda El-Hassar, Ahmed Amara, Benoit Sanson, Oana Lacatus, Ahmed Amir Belhouchet, Madelon Kroneman, Kristl Claeys, Jean Philippe Plancon, Carmelo Rodolico, Guido Primiano, Francesca Trojsi, Massimiliano Filosto, Tiziana Enrica Mongini, Sara Bortolani, Mauro Monforte, Elena Carraro, Lorenzo Maggi, Federica Ricci, Vincenzo Silani, Daniele Orsucci, Alain Creange, Yann Pereon, Tanya Stojkovic, Nadine Anna Maria Elisabeth van der Beek, Antonio Toscano, Davide Pareyson, Shahram Attarian, Peter Y. K. Van den Bergh, Gauthier Remiche, Janneke G. J. Hoeijmakers, Umesh Badrising, Nicol C. Voermans, Angela M. Kaindl, Ulrike Schara-Schmidt, Benedikt Schoser, Elisabetta Gazzerro, Jana Haberlova, Stanislav Vohanka, Endre Pal, Maria Judit Molnar, Lea Leonardis, Ivailo L. Tournev, Andres Nascimento Osorio, Montse Olive, Nuria Muelas, Jorge Alonso-Perez, Francesc Pla, Marianne de Visser, Gabriele Siciliano, Sabrina Sacconi
Summary: Telemedicine has played a crucial role in providing healthcare assistance for NMD patients during the COVID-19 pandemic. However, there are limitations in its application, especially for patients with cognitive deficits or those in need of initial diagnosis. Therefore, it should be used as a complement rather than a substitute for face-to-face consultations.
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Article
Neurosciences
Veria Vacchiano, Raffaella Brugnoni, Carmen Campanale, Paola Imbrici, Giorgia Dinoi, Eleonora Canioni, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Lorenzo Maggi, Rocco Liguori, Vincenzo Donadio, Jean-Francois Desaphy
Summary: Non-dystrophic myotonias are a group of diseases characterized by muscle stiffness caused by gene mutations in CLCN1 and SCN4A. In this study, the clinical features and genetic variants of five affected relatives were described. Functional experiments revealed that the p.K1302R variant in SCN4A and the p.H838P variant in CLCN1 caused mild changes in sodium and chloride currents, respectively, leading to the mixed myotonic phenotypes observed in the patients. Mexiletine and lamotrigine were found to be effective in treating patients carrying the p.K1302R variant.
EXPERIMENTAL NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Eleonora Giagnorio, Claudia Malacarne, Paola Cavalcante, Letizia Scandiffio, Marco Cattaneo, Viviana Pensato, Cinzia Gellera, Nilo Riva, Angelo Quattrini, Eleonora Dalla Bella, Giuseppe Lauria, Renato Mantegazza, Silvia Bonanno, Stefania Marcuzzo
Summary: Amyotrophic lateral sclerosis (ALS) is characterized by the loss of upper and lower motor neurons (UMNs, LMNs) and miR-146a dysregulation may contribute to the pathogenesis of ALS. In this study, miR-146a levels were increased in ALS peripheral nerves and decreased in the serum of ALS patients, suggesting its potential as a diagnostic and prognostic biomarker for the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Andreas Meisel, Djillali Annane, Tuan Vu, Renato Mantegazza, Masahisa Katsuno, Rasha Aguzzi, Glen Frick, Laura F. Gault, James Howard Jr
Summary: This study analyzed the interim results of an ongoing open-label extension study to evaluate the long-term treatment effects of ravulizumab in patients with anti-acetylcholine receptor antibody-positive generalized myasthenia gravis. The findings showed that ravulizumab demonstrated sustained efficacy and safety in improving the disease condition of patients.
JOURNAL OF NEUROLOGY
(2023)
Letter
Clinical Neurology
Araceli Alonso-Canovas, Monica M. Kurtis, Victor Gomez-Mayordomo, Daniel Macias-Garcia, Alvaro Gutierrez Viedma, Elisabet Mondragon Rezola, Javier Pagonabarraga, Lidia Aranzabal Orgaz, Jaime Masjuan, Juan Carlos Martinez-Castrillo, Isabel Parees
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Sarah Dewilde, M. F. Janssen, Nafthali H. Tollenaar, Fiammetta Vanoli, Rita Frangiamore, Glenn Phillips, Sandra Paci, Renato Mantegazza, Andreas Meisel, Frauke Stascheit
Summary: This study aims to assess the concordance between self- and physician-reported MG-ADL scores. The results show that patients and neurologists have a concordant assessment of the patient's MG symptoms when using the MG-ADL scale. This evidence supports patient self-administration of the MG-ADL in clinical practice and research.
Article
Biochemistry & Molecular Biology
Nicola Iacomino, Letizia Scandiffio, Fabio Conforti, Erika Salvi, Maria Cristina Tarasco, Federica Bortone, Stefania Marcuzzo, Ornella Simoncini, Francesca Andreetta, Daniela Pistillo, Emanuele Voulaz, Marco Alloisio, Carlo Antozzi, Renato Mantegazza, Tommaso Martino De Pas, Paola Cavalcante
Summary: The thymus plays a role in the development of autoimmunity in myasthenia gravis (MG) patients. Changes in gene expression related to muscle autoantigens, such as AChR α subunit (CHRNA1) and autoimmune regulator (AIRE), as well as tumor-related muscle-like proteins (NEFM, HSP60, RYR1, RYR3, TTN), were observed in MG thymuses with hyperplasia and thymoma. These findings suggest a potential mechanism for the development of MG in thymomas involving altered autoantigen expression and molecular mimicry.
Article
Clinical Neurology
Vera Bril, James F. Howard Jr, Chafic Karam, Jan L. De Bleecker, Hiroyuki Murai, Kimiaki Utsugisawa, Peter Ulrichts, Edward Brauer, Sihui Zhao, Renato Mantegazza, Tuan Vu, ADAPT Study Grp
Summary: Efgartigimod is beneficial in improving muscle function and strength across all muscle groups in patients with gMG by reducing IgG concentration and showing significant improvements in Myasthenia Gravis Activities of Daily Living (MG-ADL) and Quantitative Myasthenia Gravis (QMG) scores.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Letter
Clinical Neurology
Rita Frangiamore, Elena Rinaldi, Fiammetta Vanoli, Francesca Andreetta, Renato Mantegazza, Carlo Antozzi
NEUROLOGICAL SCIENCES
(2023)
Review
Health Care Sciences & Services
Carlo Antozzi, Renato Mantegazza
Summary: Myasthenia gravis is an autoimmune disorder that causes muscle weakness and fatigue. Standard therapies have limitations and there is a need for targeted treatments. Ravulizumab, a long-acting complement inhibitor, has shown effective and sustained improvement in patients with myasthenia gravis.
PATIENT-RELATED OUTCOME MEASURES
(2023)
Article
Biochemistry & Molecular Biology
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Summary: Pompe disease is a genetic disorder caused by mutations in the GAA gene that result in glycogen storage in lysosomes, particularly in muscle tissue. The relationship between genotype and phenotype has been extensively discussed, suggesting that other genetic variants may influence the clinical presentation. In this study, we identified potentially relevant variants in genes related to glycogen synthesis and catabolism in late-onset Pompe disease patients.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Primary Health Care
Lorenzo Maggi, Gianluca Vita, Ettore Marconi, Daiana Taddeo, Michele Davi, Valeria Lovato, Claudio Cricelli, Francesco Lapi
Summary: This study found that primary care databases can be used to enhance the early identification of spinal muscular atrophy (SMA). The analysis results showed that the presence of neurology visits and prescription of electromyography were associated with higher odds of SMA diagnosis.