Antiplatelet therapy is not associated with increased risk of complications after lumbar puncture.

Background: Lumbar puncture (LP) is a critical diagnostic procedure in the evaluation of neurological diseases. Although considered safe, complications such as post-dural puncture headache (PDPH), back pain, subdural hematoma or venous sinus thrombosis may still occur. Whether the use of antiplatelet therapy (APT) increases the risk of complications after LP, remains unclear.

A clinical perspective on muscle specific kinase antibody positive myasthenia gravis.

The discovery of autoantibodies directed against muscle-specific kinase (MuSK) in "seronegative" myasthenia gravis (MG) patients marked a milestone in MG research. In healthy muscle, MuSK regulates a phosphorylation pathway, which is essential for the development and maintenance of acetylcholine receptor (AChR) clusters at the neuromuscular junction. Autoantibodies directed against MuSK are predominantly of the IgG4 subclass, but there is increasing evidence that IgG1-3 could also contribute to the pathology underlying MuSK-MG.

Impact of muscle biopsy on the clinical decision-making process in patients with suspected idiopathic inflammatory myopathy.

Background: The significance of muscle biopsy as a diagnostic tool in idiopathic inflammatory myopathies (IIM) remains elusive. We aimed to determine the diagnostic weight that has been given to muscle biopsy in patients with suspected IIM, particularly in terms of clinical diagnosis and therapeutic decisions.

Material And Methods: In this retrospective multicentric study, we analyzed muscle biopsy results of adult patients with suspected IIM referred to a tertiary center between January 1, 2007, and October 31, 2021.

Multifocal motor neuropathy as a mimic of amyotrophic lateral sclerosis: Serum neurofilament light chain as a reliable diagnostic biomarker.

Introduction/aims: The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower motor neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have specific treatments and prognoses, highlighting the importance of early diagnosis. The aim of this study was to assess the diagnostic value of serum neurofilament light chain (NfL) in differentiating MMN from LMN dominant ALS.

Guideline for the management of myasthenic syndromes.

Myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and congenital myasthenic syndromes (CMS) represent an etiologically heterogeneous group of (very) rare chronic diseases. MG and LEMS have an autoimmune-mediated etiology, while CMS are genetic disorders. A (strain dependent) muscle weakness due to neuromuscular transmission disorder is a common feature.

Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.

Background: Neuromuscular disorders (NMDs) are heterogeneous conditions with a considerable fraction attributed to monogenic defects. Despite the advancements in genomic medicine, many patients remain without a diagnosis. Here, we investigate whether a comprehensive reassessment strategy improves the diagnostic outcomes.

Thymectomy in myasthenia gravis.

Purpose Of Review: Thymectomy has long been used in the treatment of patients with myasthenia gravis and antibodies against the acetylcholine receptor. However, its effectiveness has only been proven a few years ago in a randomized controlled trial in patients under the age of 65. Here, we review the current literature focusing on patient subgroups, potential biomarkers for outcome prediction and the choice of surgical approach.

A Case of Autoimmune Small Fiber Neuropathy as Possible Post COVID Sequelae.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is reported to induce and augment autoimmune processes. Moreover, postinfectious effects of coronavirus disease 2019 (COVID-19) are still poorly understood and often resemble symptoms of the acute infection phase. A patient with swollen extremities was presented to the Department of Angiology at the Medical University of Vienna with complaints of muscle and joint pain, paresthesia, and arterial hypertension with intense headache.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets, and four copy number variants at exome-wide significance.

The diagnostic and prognostic utility of repetitive nerve stimulation in patients with myasthenia gravis.

Repetitive nerve stimulation (RNS) is a standard test for the diagnosis of myasthenia gravis (MG), where decrement of compound muscle action potentials (CMAP) corresponds to clinical muscle fatigability. Our aim was to ascertain the diagnostic and prognostic utility of RNS in MG patients. This study included MG patients treated between 01/2000 and 12/2016, with an observational period of at least one year and a minimum of two neurological examinations.

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.

Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations are warranted.

Methods: We used a nationwide approach to collect Austrian patients with genetically confirmed CMS.

Perioperative Management of Patients With Myasthenia Gravis Undergoing Robotic-Assisted Thymectomy-A Retrospective Analysis and Clinical Evaluation.

Objective: Postoperative myasthenic crisis with respiratory failure is a potentially lethal complication, warranting careful perioperative planning and extended postoperative surveillance of patients. Data on the incidence of postoperative respiratory failure and optimal management of patients after robotic-assisted thymectomy are limited. The objective of this study was to evaluate the incidence of respiratory complications and the need for intensive care unit (ICU) capacities after robotic-assisted thymectomy in patients with myasthenia gravis.

Short-term and sustained clinical response following thymectomy in patients with myasthenia gravis.

Background And Purpose: This study was undertaken to investigate short- and long-term outcome following thymectomy in patients with acetylcholine receptor antibody (AChR-Ab)-positive myasthenia gravis (MG).

Methods: Rates of clinical response (defined as minimal manifestation, pharmacological remission, or complete stable remission) lasting for at least 1 year were retrospectively analyzed using Cox proportional hazard models. The occurrence of relapses was recorded during follow-up.

Connectome Analysis in an Individual with SETD1B -Related Neurodevelopmental Disorder and Epilepsy.

Objective: Causative variants in SETD1B , encoding a lysine-specific methyltransferase, have recently been associated with a neurodevelopmental phenotype encompassing intellectual disability, autistic features, pronounced language delay, and epilepsy. It has been noted that long-term and deep phenotype data are needed to further delineate this rare condition.

Methods: In this study, we provide an in-depth clinical characterization with long-term follow-up and trio exome sequencing findings to describe one additional individual affected by SETD1B -related disorder.

Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

Background And Purpose: Hereditary myopathies with limb-girdle muscular weakness (LGW) are a genetically heterogeneous group of disorders, in which molecular diagnosis remains challenging. Our aim was to present a detailed clinical and genetic characterization of a large cohort of patients with LGW.

Methods: This nationwide cohort study included patients with LGW suspected to be associated with hereditary myopathies.

B Cell Depletion and SARS-CoV-2 Vaccine Responses in Neuroimmunologic Patients.

Objective: The study was undertaken to assess the impact of B cell depletion on humoral and cellular immune responses to severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) vaccination in patients with various neuroimmunologic disorders on anti-CD20 therapy. This included an analysis of the T cell vaccine response to the SARS-CoV-2 Delta variant.

Methods: We investigated prospectively humoral and cellular responses to SARS-CoV-2 mRNA vaccination in 82 patients with neuroimmunologic disorders on anti-CD20 therapy and 82 age- and sex-matched healthy controls.

Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.

Background And Objectives: To study the clinical and laboratory features of antineurofascin-155 (NF155)-positive autoimmune nodopathy (AN).

Methods: Patients with anti-NF155 antibodies detected on routine immunologic testing were included. Clinical characteristics, treatment response, and functional scales (modified Rankin Scale [mRS] and Inflammatory Rasch-built Overall Disability Scale [I-RODS]) were retrospectively collected at baseline and at the follow-up.

Incidence and clinical spectrum of rhabdomyolysis in general neurology: a retrospective cohort study.

The objective of this retrospective cohort study was to evaluate demographic, clinical and laboratory characteristics of patients with rhabdomyolysis as defined by a serum creatine kinase (sCK) activity > 950 U/L. A total of 248 patients were recruited from the Department of Neurology, Medical University of Vienna, between 01/2000 and 12/2017, with a median sCK activity of 2,160 U/l (IQR 1,342-4,786). Seizures (31.

Estimation of patent foramen ovale size using transcranial Doppler ultrasound in patients with ischemic stroke.

Background And Purpose: Patent foramen ovale (PFO)is associated with cryptogenic stroke, especially in young adults. Transcranial Doppler (TCD) ultrasound is used as a screening tool before transesophageal echocardiography (TEE). However, the use of Valsalva maneuver (VM) to identify a right-to-left-shunt underlies interindividual variability.

Real-world treatment of adult patients with Guillain-Barré syndrome over the last two decades.

This study investigated treatment characteristics of Guillain-Barré syndrome (GBS) in a real-world setting between 2000 and 2019. We analyzed clinical improvement between nadir and last follow-up in patients with severe GBS (defined as having a GBS disability scale > 2 at nadir) and aimed to detect clinical factors associated with multiple treatments. We included 121 patients (74 male; median age 48 [IQR 35-60]) with sensorimotor (63%), pure motor (15%), pure sensory (10%) and localized GBS (6%) as well as Miller Fisher syndrome (6%).