Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with ‘unexplained’ limb-girdle muscular weakness

Publication date: Available online 29 March 2020Source: Journal of Clinical NeuroscienceAuthor(s): Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Raquel Cristina Arndt, Nyvia Milicio Coblinski Hrysay, Renata Dal-Pra Ducci, Otto H. Jesus Fustes, Ana Töpf, Hanns Lochmüller, Lineu Cesar Werneck, Rosana Herminia Scola
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research

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This article describes the first reported case of myasthenia gravis (MG) seropositive for both acetylcholine receptor antibody and low-density lipoprotein receptor-related protein 4 antibody, complicated by autoimmune polyglandular syndrome (APS) type 3. The patient exhibited myasthenic weakness restricted to the ocular muscles and ptosis. Severe clinical deterioration ensued with predominant bulbar symptoms. MG rapidly worsened, the patient was intubated, and agranulocytosis due to thiamazole was also present, so it was necessary to perform thyroidectomy with tracheostomy and thymectomy in two phases. Both the double-sero...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
cute;s-Sánchez A PMID: 32459199 [PubMed - as supplied by publisher]
Source: Archivos de Cardiologia de Mexico - Category: Cardiology Authors: Tags: Arch Cardiol Mex Source Type: research
Authors: Hanley PJ, Vollmer V, Bähler M Abstract Class IX myosins are simultaneously motor and signaling molecules. In addition to myosin class-specific functions of the tail region, they feature unique motor properties. Within their motor region they contain a long insertion with a calmodulin- and a F-actin-binding site. The rate-limiting step in the ATPase cycle is ATP hydrolysis rather than, typical for other myosins, the release of either product. This means that class IX myosins spend a large fraction of their cycle time in the ATP-bound state, which is typically a low F-actin affinity state. Nevertheless...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Four retrospective studies from the United States, Europe, and Asia address outcomes in juvenile myasthenia gravis. Common features include earlier onset with ocular myasthenia gravis (MG) and generally good outcomes overall. Patients who were seronegative, had equivocal acetylcholine receptor (AChR) antibodies, or had only clustered AChR antibodies had better outcomes. An article highlighting the utility of median nerve slow-repetitive stimulation is reviewed and another showing the high sensitivity of repetitive nerve stimulation in myasthenic crisis is covered. Two articles address the thymus and thymectomy in non-AChR ...
Source: Journal of Clinical Neuromuscular Disease - Category: Neurology Tags: Review Article Source Type: research
We report a Spanish case, a carrier of one known hetero-allelic missense mutation and one newly identified MUSK gene variant. Our patient presented with congenital onset ophthalmoplegia and palpebral ptosis associated with limb–girdle weakness and exercise intolerance without prominent fatigability, developed during his twenties. He was misdiagnosed as mitochondrial myopathy because of paraclinic and histologic findings, but detailed clinical examination prompted us to reassess him with repetitive stimulation technique, demonstrating decremental response and suggesting myasthenic syndrome. A genetic study confirmed t...
Source: Journal of Clinical Neuromuscular Disease - Category: Neurology Tags: Case Review Source Type: research
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Source: Journal of Clinical Neuromuscular Disease - Category: Neurology Tags: Letters to the Editor Source Type: research
A detailed understanding of the role of Tfh cells in MuSK-antibody positive myasthenia gravis (MuSK-MG) is lacking. We characterized phenotype and function of Tfh cells in MuSK-MG patients and controls. We found similar overall Tfh and follicular regulatory (Tfr) T cell frequencies in MuSK-MG and healthy controls, but MuSK-MG patients exhibited higher frequencies of Tfh17 cells and a higher ratio of Tfh:Tfr cells. These results suggest imbalanced Tfh cell regulation, further supported by increased frequencies of CD4 T cells co-producing IL-21/IL-17 and IL-17/IFN- γ, and increased Tfh-supported IgG production.
Source: Journal of Neuroimmunology - Category: Allergy & Immunology Authors: Source Type: research
Myasthenia gravis (MG) is a prototypical autoantibody mediated disease. The autoantibodies in MG target structures within the neuromuscular junction (NMJ), thus affecting neuromuscular transmission. The major disease subtypes of autoimmune MG are defined by their antigenic target. The most common target of pathogenic autoantibodies in MG is the nicotinic acetylcholine receptor (AChR), followed by muscle-specific kinase (MuSK) and lipoprotein receptor-related protein 4 (LRP4). MG patients present with similar symptoms independent of the underlying subtype of disease, while the immunopathology is remarkably distinct. Here we...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Publication date: Available online 23 May 2020Source: Multiple Sclerosis and Related DisordersAuthor(s): Molly Bates, Jason Chisholm, Eric Miller, Jagannadha Avasarala, Zain Guduru
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
Contributors : Paola Cavalcante ; Carlo AntozziSeries Type : Non-coding RNA profiling by high throughput sequencingOrganism : Homo sapiensPurpose: to identify specific miRNAs as biomarkers associated with immunosuppressive treatment response in MG patients.Methods: Blood miRNome profiles of 15 responder and 15 non-responder MG patients by miRNA-seq using Illumina NextSeq 500 sequencing. Raw data were de-multiplexed and FASTQ files for each sample were generated using the bcl2fastq software. FASTQ data were checked using the FastQC tool. After mapping the data and counting to relevant entries in miRBase 20 (http://www.mirba...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by high throughput sequencing Homo sapiens Source Type: research
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