Article
Ophthalmology
Natalia Arruti, Pinki Munot, Richard Bowman
Summary: This study retrospectively analyzed the medical records of pediatric patients with myasthenia gravis who were examined at Great Ormond Street Hospital between 2016 and 2020. The study found that juvenile myasthenia gravis, particularly the ocular form, was the most common type of myasthenia gravis in children. Ptosis was the most common presenting sign, and the majority of patients showed improvement after medical treatment.
Review
Medicine, General & Internal
Camille Bouchard, Jacques P. Tremblay
Summary: This review article presents 39 genes associated with limb-girdle muscular dystrophies (LGMDs), which can be inherited dominantly or recessively. The classification of LGMDs has evolved over time and now requires a mutation causing proximal muscle weakness found in multiple unrelated families. The article also discusses available and developing therapies for LGMDs, aiming to address the root cause of the disease instead of treating individual symptoms.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Immunology
Ruksana Huda
Summary: Myasthenia gravis (MG) is a neuromuscular autoimmune disorder characterized by chronic but intermittent fatigue of the eye- and general body muscles. Muscle weakness is caused primarily by the binding of an autoantibody to the acetylcholine receptors, resulting in blockage of normal neuromuscular signal transmission. Research aims to identify unknown molecular pathways and novel targets involved in inflammation associated with MG and suggest the potential of targeting important inflammatory marker(s) along with current monoclonal antibody or antibody fragment based targeted therapies directed to a variety of cell surface receptors.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Clinical Neurology
Martin Krenn, Matthias Tomschik, Matias Wagner, Gudrun Zulehner, Rosa Weng, Jakob Rath, Sigrid Klotz, Ellen Gelpi, Gabriel Bsteh, Omar Keritam, Isabella Colonna, Chiara Paternostro, Fiona Jaeger, Elisabeth Lindeck-Pozza, Stephan Iglseder, Susanne Grinzinger, Martina Schoenfelder, Christina Hohenwarter, Manfred Freimueller, Norbert Embacher, Julia Wanschitz, Raffi Topakian, Ana Toepf, Volker Straub, Stefan Quasthoff, Fritz Zimprich, Wolfgang N. Loescher, Hakan Cetin
Summary: The study focused on hereditary myopathies with limb-girdle muscular weakness (LGW) and found that using next-generation sequencing (NGS) earlier in the diagnostic process is necessary to avoid long delays in diagnosis. Parameters predictive of a molecular diagnosis were identified, which can help select patients for genetic analyses, especially in centers with limited access to sequencing technology.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Review
Nutrition & Dietetics
Angel Yun-Kuan Thye, Jodi Woan-Fei Law, Loh Teng-Hern Tan, Sivakumar Thurairajasingam, Kok-Gan Chan, Vengadesh Letchumanan, Learn-Han Lee
Summary: The disruption of gut microbiota is associated with the pathogenesis of myasthenia gravis (MG). MG patients have altered gut microbiota composition compared to healthy individuals, and these changes are related to the severity of MG and gut inflammation. Alterations in gut microbiota can be used as a diagnostic tool for MG, and probiotics can modulate gut microbiota and help prevent and treat MG.
Review
Immunology
Ying Zhu, Benqiao Wang, Yuehan Hao, Ruixia Zhu
Summary: Multiple reports have shown the co-existence of autoimmune diseases and myasthenia gravis (MG). This review explores the clinical presentations of autoimmune diseases in MG and investigates whether the presence of autoimmune diseases affects the severity and treatment strategies of MG. The review reveals a higher frequency of autoimmune diseases in MG patients, particularly in women. Most autoimmune comorbidities are linked to AChR-MG, with thyroid disorders, systemic lupus erythematosus, and vitiligo being the most common. MG can also coexist with neurological autoimmune diseases, with neuromyelitis optica (NMO) being the most common. The review suggests that autoimmune diseases occur more often in early-onset MG and do not influence the clinical course of MG.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Mariela L. Paz, Francisco J. Barrantes
Summary: Myasthenia gravis is a disease that affects the signaling at the cholinergic neuromuscular junction, mainly caused by autoimmune diseases. Research also shows that cholesterol's rich content at the postsynaptic membrane is related to the modulation of nicotinic receptors, with discussions on the pathophysiology of myasthenia gravis affected by cholesterol.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
(2021)
Article
Clinical Neurology
Qiang Gang, Conceicao Bettencourt, Stefen Brady, Janice L. Holton, Estelle G. Healy, John McConville, Patrick J. Morrison, Michela Ripolone, Raffaella Violano, Monica Sciacco, Maurizio Moggio, Marina Mora, Renato Mantegazza, Simona Zanotti, Zhaoxia Wang, Yun Yuan, Wei-wei Liu, David Beeson, Michael Hanna, Henry Houlden
Summary: This study identified genetic variants associated with myopathies with tubular aggregates (TAs) and demonstrated the potential role of ALG14 variants in TAs pathogenesis through cell experiments. The findings expand the phenotypic and genotypic spectrums of myopathies with TAs and support the hypothesis that genes related to calcium signaling pathway and N-linked glycosylation pathway are key genetic causes of TAs.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Clinical Neurology
Jeffrey E. Fournier, Gloria Mak, Katerina Gordon, Judah Glogauer, Faiha Fareez, John Provias, Mark A. Tarnopolsky, Jian-Qiang Lu
Summary: Cylindrical spirals (CSs) were found in 9 muscle biopsies, accounting for 0.5% of the biopsies examined. CSs are often confused with similar ultrastructures but can be distinguished by their specific features. CSs are associated with various neurological diseases and genetic abnormalities.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2023)
Article
Surgery
Ahmed AL-Bulushi, Issa Al Salmi, Fatma Al Rahbi, AbdulAziz Al Farsi, Suad Hannawi
Summary: This study investigated the epidemiology of patients with myasthenia gravis who underwent thymectomy at the Royal Hospital in Muscat, Oman over the past three decades. The results showed that post-thymectomy, most patients experienced significant clinical improvement, with a small percentage achieving complete clinical remission.
ASIAN JOURNAL OF SURGERY
(2021)
Article
Clinical Neurology
Antonio Lauletta, Laura Fionda, Gioia Merlonghi, Luca Leonardi, Stefania Morino, Elisabetta Bucci, Laura Tufano, Girolamo Alfieri, Rocco Costanzo, Elena Rossini, Marco Salvetti, Giovanni Antonini, Matteo Garibaldi
Summary: We report a novel case of MG-IM association with typical distal upper limb weakness, and provide histopathological evidence of a prominent inflammatory process responsible for this weakness. The muscle biopsy showed marked inflammation in the extensor digitorum communis muscle.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Richard J. Nowak, Christopher S. Coffey, Jonathan M. Goldstein, Mazen M. Dimachkie, Michael Benatar, John T. Kissel, Gil Wolfe, Ted M. Burns, Miriam L. Freimer, Sharon Nations, Volkan Granit, A. Gordon Smith, David P. Richman, Emma Ciafaloni, Muhammad T. Al-Lozi, Laura Ann Sams, Dianna Quan, Eroboghene Ubogu, Brenda Pearson, Aditi Sharma, Jon W. Yankey, Liz Uribe, Michael Shy, Anthony A. Amato, Robin Conwit, Kevin C. O'Connor, David A. Hafler, Merit E. Cudkowicz, Richard J. Barohn
Summary: This study suggests that rituximab is safe but unlikely to significantly reduce steroid use in patients with mild to moderate symptoms of AChR-Ab+ gMG.
Article
Radiology, Nuclear Medicine & Medical Imaging
Weiqiang Liang, Yang Liu, Yali Zhao, Yu Chen, Yangyang Yin, Linhan Zhai, Zehui Li, Zhenxiang Gong, Jing Zhang, Min Zhang
Summary: This study aimed to evaluate the diagnostic performance of quantitative MRI in patients with upper extremity onset of amyotrophic lateral sclerosis (ALS). The results showed that brachial plexus thinning, limb-girdle muscle atrophy, and fatty infiltration may serve as MRI-derived biomarkers for ALS.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Article
Clinical Neurology
Jonathan P. R. Monteleone, Xiang Gao, Huub Jan Kleijn, Francesco Bellanti, Ryan Pelto
Summary: The approved 900/1,200 mg dosing regimen for eculizumab in patients with generalized myasthenia gravis (gMG) achieved complete inhibition of terminal complement activation and provided sustained clinical efficacy. Model-based exposure-response analysis demonstrated consistent clinical efficacy and tolerability across the eculizumab exposure range.
FRONTIERS IN NEUROLOGY
(2021)
Review
Immunology
Agustina M. Lascano, Patrice H. Lalive
Summary: Myasthenia gravis is an autoimmune disease of the neuromuscular junction, and treatment requires careful consideration to avoid the risks associated with long-term systemic steroid administration. Emerging therapies for MG focus on using biological drugs and targeting new pathways of the immune system to address disease heterogeneity.
AUTOIMMUNITY REVIEWS
(2021)
