Phenotypic patterns and response to immunotherapy in a group of Very Late Onset Myasthenia Gravis: a single center study.

Background/aims: The goal of this study was to assess the clinical profile of myasthenia gravis (MG) in patients diagnosed above 65-years of age (VLOMG) and identify clinical/serological parameters associated with their MG status and prognosis.

Methods: This was a retrospective assessment of consecutive patients with VLOMG (n = 70) Demographics, clinical characteristics, medical comorbidities, the Myasthenia Gravis Foundation of America (MGFA) severity scale scores, and MGFA Post-Intervention Status (MGFA-PIS) were collected.

Results: The research population was diagnosed with MG at an average age of 73.

Ocular myasthenia gravis and thyroid eye disease: double trouble.

A 60-year-old male patient with a previously unremarkable medical history presented with unilateral eyelid ptosis and binocular diplopia in the past year. Clinical and laboratory workup confirmed the diagnosis of ocular myasthenia gravis. In addition, further workup with orbital MRI performed due to exophthalmos and unilateral ophthalmoplegia demonstrated findings compatible with thyroid eye disease, which were further verified by antibody testing.

A retrospective multicenter study on clinical and serological parameters in patients with MuSK myasthenia gravis with and without general immunosuppression.

Introduction: Muscle-specific kinase (MuSK)- myasthenia gravis (MG) is caused by pathogenic autoantibodies against MuSK that correlate with disease severity and are predominantly of the IgG4 subclass. The first-line treatment for MuSK-MG is general immunosuppression with corticosteroids, but the effect of treatment on IgG4 and MuSK IgG4 levels has not been studied.

Methods: We analyzed the clinical data and sera from 52 MuSK-MG patients (45 female, 7 male, median age 49 (range 17-79) years) from Italy, the Netherlands, Greece and Belgium, and 43 AChR-MG patients (22 female, 21 male, median age 63 (range 2-82) years) from Italy, receiving different types of immunosuppression, and sera from 46 age- and sex-matched non-disease controls (with no diagnosed diseases, 38 female, 8 male, median age 51.

Pearls & Oy-sters: Thyroid-Associated Ophthalmopathy and Transient Neuromuscular Junction Disorder Due to Graves Disease.

The concomitant presentation of thyroid-associated ophthalmopathy (TAO) and ocular myasthenia gravis is well documented. In the course of Graves disease (GD), symptomatic transient neuromuscular junction disorder may occur due to the effect of thyroid hormones at the neuromuscular synapse. Diagnostic clues are the clinical and electrophysiologic remission synchronous with restoration of euthyroidism.

Immunotherapies in MuSK-positive Myasthenia Gravis; an IgG4 antibody-mediated disease.

Muscle-specific kinase (MuSK) Myasthenia Gravis (MG) represents a prototypical antibody-mediated disease characterized by predominantly focal muscle weakness (neck, facial, and bulbar muscles) and fatigability. The pathogenic antibodies mostly belong to the immunoglobulin subclass (Ig)G4, a feature which attributes them their specific properties and pathogenic profile. On the other hand, acetylcholine receptor (AChR) MG, the most prevalent form of MG, is characterized by immunoglobulin (Ig)G1 and IgG3 antibodies to the AChR.

Hippocampal Metabolic Alterations in Amyotrophic Lateral Sclerosis: A Magnetic Resonance Spectroscopy Study.

Background: Magnetic resonance spectroscopy (MRS) in amyotrophic lateral sclerosis (ALS) has been overwhelmingly applied to motor regions to date and our understanding of frontotemporal metabolic signatures is relatively limited. The association between metabolic alterations and cognitive performance in also poorly characterised.

Material And Methods: In a multimodal, prospective pilot study, the structural, metabolic, and diffusivity profile of the hippocampus was systematically evaluated in patients with ALS.

Immunological and Structural Characterization of Titin Main Immunogenic Region; I110 Domain Is the Target of Titin Antibodies in Myasthenia Gravis.

Myasthenia gravis (MG) is an autoimmune disease caused by antibodies targeting the neuromuscular junction (NJ) of skeletal muscles. The major MG autoantigen is nicotinic acetylcholine receptor. Other autoantigens at the NJ include MuSK, LRP4 and agrin.

Safety of COVID-19 vaccines in multiple sclerosis: A systematic review and meta-analysis.

Background: Data are sparse regarding the safety of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccines in patients with multiple sclerosis (MS).

Objective: To estimate (1) the pooled proportion of MS patients experiencing relapse among vaccine recipients; (2) the rate of transient neurological worsening, adverse events, and serious adverse events; (3) the previous outcomes of interest for different SARS-CoV-2 vaccine types.

Methods: Systematic review and meta-analysis of pharmacovigilance registries and observational studies.

Delayed Leucoencephalopathy as a Complication after Endovascular Therapy of Intracranial Aneurysms-A Case Series.

We describe the clinical presentation, radiological findings, treatment and outcomes of three patients with delayed leukoencephalopathy occurring after endovascular treatment (EVT) for cerebral aneurysms-a rare, albeit recurring, complication. The symptoms occurred 6 to 12 months following the EVT of the cerebral aneurysm. Characteristic imaging findings included high-signal changes on T2 images in the white matter without diffusion restriction predominantly at the distribution of the vascular territory of the catheterized arteries, coupled with patchy gadolinium enhancement or low susceptibility weighted imaging (SWI) signals within the white-matter lesions.

Non-pharmacological Interventions on Pain and Quality of Life in Chemotherapy Induced Polyneuropathy: Systematic Review and Meta-Analysis.

Background/aim: Chemotherapy-induced peripheral neuropathy (CIPN) is a common side effect of cancer treatment, resulting in pain, numbness, instability, and thus affecting quality of life (QoL), occasionally leading to discontinuation of chemotherapy. Pharmacological treatments are not sufficient. Non-pharmacological interventions (NPIs) have also been tried.

Bradykinesia assessment in children with cerebral palsy and periventricular leukomalacia.

Objective: To analyse the motor phenotype with a focus on bradykinesia in children with Cerebral Palsy (CP) in the setting of periventricular leukomalacia (PVL).

Methodology: Analysis of a cohort of 25 children with CP and PVL. The Gross Motor Function Classification System (GMFCS) and the Manual Ability Classification System (MACS) were used to classify the severity of motor function.

Cerebral Amyloid Angiopathy-Related Inflammation: A Single-Center Experience and a Literature Review.

Background: Limited data exist regarding the prevalence of clinical, neuroimaging, and genetic markers among patients diagnosed with Cerebral Amyloid Angiopathy−related inflammation (CAA-ri). We sought to determine these characteristics in patients diagnosed in our center and to summarize available literature published either as single-case reports or small case series (<5 patients). Methods: We reported our single-center experience of patients diagnosed with CAA-ri according to international criteria during a seven-year period (2015−2022), and we abstracted data from 90 previously published cases.

Characterization of the nicotinic acetylcholine receptor antibodies after an unexpected increase of antibody titer in thymoma associated myasthenia gravis patients.

Two thymoma-associated myasthenia gravis patients with chronic well-controlled disease but an unexpected increase in anti-nAChR autoantibodies titer are reported. The specificity of anti-nAChR autoantibodies directed against extracellular parts of the receptor was studied in order to investigate the discrepancy between clinical and immunological status. Analysis of the anti-nAChR autoantibodies recognizing the extracellular parts of the nAChR revealed that when the concentration of anti-nAChR autoantibodies titer increased both patients had non-anti-α1 autoantibodies.

Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review.

Background: Fabry disease (FD) is an inherited lysosomal storage disorder, leading to multisystemic manifestations and causing significant morbidity and mortality.

Objective: The aim of this narrative review is to present the current and novel therapeutic strategies in FD, including symptomatic and specific treatment options.

Methods: A systematic literature search was conducted to identify relevant studies, including completed and ongoing randomized-controlled clinical trials (RCTs), prospective or retrospective cohort studies, case series and case reports that provided clinical data regarding FD treatment.

Neurometabolic Alterations in Motor Neuron Disease: Insights from Magnetic Resonance Spectroscopy.

Magnetic resonance spectroscopy (MRS) has contributed important academic insights in motor neuron diseases (MNDs), particularly in amyotrophic lateral sclerosis (ALS). Over the past three decades momentous methodological advances took place, including the emergence of high-field magnetic resonance imaging (MRI) platforms, multi-voxel techniques, whole-brain protocols, novel head-coil designs, and a multitude of open-source imaging suites. Technological advances in MRS are complemented by important conceptual developments in MND, such as the recognition of the importance of extra-motor brain regions, multi-timepoint longitudinal study designs, assessment of asymptomatic mutation carriers, description of genotype-associated signatures, and the gradual characterisation of non-ALS MND phenotypes.

Analysis of nAChR Autoantibodies Against Extracellular Epitopes in MG Patients.

Myasthenia gravis (MG) is an autoimmune disorder caused by autoantibodies targeting components of the postsynaptic membrane of the neuromuscular junction (NMJ), leading to neuromuscular transmission deficiency. In the vast majority of patients, these autoantibodies target the nicotinic acetylcholine receptor (nAChR), a heteropentameric ion channel anchored to the postsynaptic membrane of the NMJ. Autoantibodies in patients with MG may target all the subunits of the receptor at both their extracellular and intracellular regions.