- Inter-laboratory comparison of routine autoantibody detection methods for autoimmune neuropathies and myasthenia gravisby Laura Martínez-Martínez on April 5, 2024 at 10:00
Serological tests are important to detect autoantibodies (autoAbs) in patients with autoimmune neuropathies (AN) and myasthenia gravis (MG) as they are biomarkers for diagnosis, stratification, treatment selection, and monitoring. However, tests to detect autoAbs frequently lack proper standardization and results differ across diagnostic laboratories. We compared results for tests routinely performed in Spanish diagnostic laboratories to detect AN and MG autoAbs. In the Spanish Society of...
- Membrane Proteome-Wide Screening of Autoantibodies in CIDP Using Human Cell Microarray Technologyby Marta Caballero-Ávila on March 14, 2024 at 10:00
BACKGROUND AND OBJECTIVES: Autoantibody discovery in complex autoimmune diseases is challenging. Diverse successful antigen identification strategies are available, but, so far, have often been unsuccessful, especially in the discovery of protein antigens in which conformational and post-translational modification are critical. Our study assesses the utility of a human membrane and secreted protein microarray technology to detect autoantibodies in chronic inflammatory demyelinating...
- Excellent response to anti-CD38 therapy with daratumumab in a patient with severe refractory CANOMADby Elba Pascual-Goñi on February 10, 2024 at 11:00
CONCLUSIONS: The first patient with aggressive treatment-refractory CANOMAD treated with daratumumab provides proof-of-principle evidence that daratumumab may be an effective treatment in IgM-related neuropathies.
- Correction to: Frequency and clinical correlates of anti-nerve antibodies in a large population of CIDP patients included in the Italian databaseby Giuseppe Liberatore on November 26, 2023 at 11:00
No abstract
- Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS)by Esther Palones on November 2, 2023 at 10:00
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is an hereditary autosomal recessive disease. Recent studies propose including chronic cough (CC) as a symptom of CANVAS. For 10 patients with CANVAS as genetically confirmed by biallelic expansion of the AAGG repeat motif (AAGGGexp) in intron 2 of replication factor C subunit 1 (RFC1), our aim was, as a multidisciplinary team, to describe clinical and functional characteristics and possible causes of CC...
- Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohortby Merel C Broers on October 25, 2023 at 10:00
CONCLUSIONS: Distinguishing CIDP from AN is important, as patients with AN need a different treatment approach. Improvement and relapses were associated with changes in antibody titres, supporting the pathogenicity of these antibodies.
- European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndromeby Pieter A van Doorn on October 10, 2023 at 10:00
Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy. Symptoms may vary greatly in presentation and severity. Besides weakness and sensory disturbances, patients may have cranial nerve involvement, respiratory insufficiency, autonomic dysfunction and pain. To develop an evidence-based guideline for the diagnosis and treatment of GBS, using Grading of Recommendations, Assessment, Development and Evaluation (GRADE) methodology, a Task Force (TF) of the European Academy of Neurology...
- European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndromeby Pieter A van Doorn on October 10, 2023 at 10:00
Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy. Symptoms may vary greatly in presentation and severity. Besides weakness and sensory disturbances, patients may have cranial nerve involvement, respiratory insufficiency, autonomic dysfunction and pain. To develop an evidence-based guideline for the diagnosis and treatment of GBS, using Grading of Recommendations, Assessment, Development and Evaluation (GRADE) methodology a Task Force (TF) of the European Academy of Neurology...
- mRNA COVID-19 Vaccination Does Not Exacerbate Symptoms or Trigger Neural Antibody Responses in Multiple Sclerosisby Yolanda Blanco on September 7, 2023 at 10:00
BACKGROUND AND OBJECTIVE: In people with multiple sclerosis (pwMS), concern for potential disease exacerbation or triggering of other autoimmune disorders contributes to vaccine hesitancy. We assessed the humoral and T-cell responses to SARS-CoV-2 after mRNA vaccination, changes in disease activity, and development of antibodies against central or peripheral nervous system antigens.
- The autoimmune vulnerability of the node of Ranvierby Luis Querol on June 5, 2023 at 10:00
The nodes of Ranvier (NoR) are essential domains for nerve conduction and their disruption plays a key role in the pathophysiology of immune-mediated neuropathies. Our understanding of the specialized nodal regions and the immune mechanisms that affect them is growing and has led to the update of peripheral neuropathy classification to include the autoimmune nodopathies, defined by the site of the autoimmune attack. Autoantibodies directed against molecules of the nodal region (as...
- An innovative phase 2 proof-of-concept trial design to evaluate SAR445088, a monoclonal antibody targeting complement C1s in chronic inflammatory demyelinating polyneuropathyby Luis Querol on April 29, 2023 at 10:00
BACKGROUND AND AIMS: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare immune-mediated disease of the peripheral nerves, with significant unmet treatment needs. Clinical trials in CIDP are challenging; thus, new trial designs are needed. We present design of an open-label phase 2 study (NCT04658472) evaluating efficacy and safety of SAR445088, a monoclonal antibody targeting complement C1s, in CIDP.
- Antibodies against the flotillin-1/2 complex in patients with multiple sclerosisby Cinta Lleixà on April 24, 2023 at 10:00
Multiple sclerosis is a tissue-specific autoimmune disease of the central nervous system in which the antigen(s) remains elusive. Antibodies targeting the flotillin-1/2 complex have been described in 1-2% of the patients in a recent study. Other candidate antigens as anoctamin-2 or neurofascin-155 have been previously described in multiple sclerosis patients, although their clinical relevance remains uncertain. Our study aims to analyse the frequency and clinical relevance of antibodies against...
- CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndromeby Helle Al-Hakem on April 19, 2023 at 10:00
BACKGROUND AND OBJECTIVES: To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome Study.
- IgM anti-MAG± peripheral neuropathy (IMAGiNe) study protocol: An international, observational, prospective registry of patients with IgM M-protein peripheral neuropathiesby Tatiana Hamadeh on April 12, 2023 at 10:00
CONCLUSION: The constructed interval scales will be cross-culturally valid and suitable for use in future clinical trials and daily practice. The ultimate goals are to improve functional individualized assessment, reach international consensus, and lay the foundations for successful designs in future studies.
- Effect of monovalency on anti-contactin-1 IgG4by Guillaume Taieb on March 31, 2023 at 10:00
INTRODUCTION: Autoimmune nodopathies (AN) have been diagnosed in a subset of patients fulfilling criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who display no or poor response to intravenous immunoglobulins. Biomarkers of AN are autoantibodies, mainly IgG4, directed against the ternary paranodal complex composed by neurofascin-155, contactin-1 (CNTN1), and Contactin-associated-protein-1 (CASPR1) or against the nodal isoforms of neurofascin. IgG4 can undergo a...
- Clinical and pathophysiological implications of autoantibodies in autoimmune neuropathiesby R Collet on March 12, 2023 at 10:00
Autoimmune neuropathies are a heterogeneous group of rare and disabling diseases in which the immune system targets peripheral nervous system antigens and that respond to immune therapies. This review focuses on Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy, polyneuropathy associated with IgM monoclonal gammopathy, and autoimmune nodopathies. Autoantibodies targeting gangliosides, proteins in the node of Ranvier, and myelin-associated...
- Contactin-1 links autoimmune neuropathy and membranous glomerulonephritisby Janev Fehmi on March 9, 2023 at 11:00
Membranous glomerulonephritis (MGN) is a common cause of nephrotic syndrome in adults, mediated by glomerular antibody deposition to an increasing number of newly recognised antigens. Previous case reports have suggested an association between patients with anti-contactin-1 (CNTN1)-mediated neuropathies and MGN. In an observational study we investigated the pathobiology and extent of this potential cause of MGN by examining the association of antibodies against CNTN1 with the clinical features...
- Neuroinflammation-Related Proteins NOD2 and Spp1 Are Abnormally Upregulated in Amyotrophic Lateral Sclerosisby Noemí de Luna on December 2, 2022 at 11:00
BACKGROUND AND OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of unknown etiology and poorly understood pathophysiology. There is no specific biomarker either for diagnosis or prognosis. The aim of our study was to investigate differentially expressed proteins in the CSF and serum from patients with ALS to determine their role in the disease process and evaluate their utility as diagnostic or prognostic biomarkers.
- Modified Erasmus GBS Respiratory Insufficiency Score: a simplified clinical tool to predict the risk of mechanical ventilation in Guillain-Barré syndromeby Linda W G Luijten on November 25, 2022 at 11:00
CONCLUSIONS: The mEGRIS is a simple and accurate tool for predicting the risk of MV in GBS. Compared with the original model, the mEGRIS requires less information for predictions with equal accuracy, can be used to predict MV at multiple time points and is also applicable in less severely affected patients and GBS variants. Model performance was consistent across different regions.
- Guillain-Barré Syndrome Following Zika Virus Infection Is Associated With a Diverse Spectrum of Peripheral Nerve Reactive Antibodiesby Alexander J Davies on November 21, 2022 at 11:00
BACKGROUND AND OBJECTIVES: Recent outbreaks of Zika virus (ZIKV) in South and Central America have highlighted significant neurologic side effects. Concurrence with the inflammatory neuropathy Guillain-Barré syndrome (GBS) is observed in 1:4,000 ZIKV cases. Whether the neurologic symptoms of ZIKV infection are immune mediated is unclear. We used rodent and human live cellular models to screen for anti-peripheral nerve reactive IgG and IgM autoantibodies in the sera of patients with ZIKV with and...
- An International Perspective on Preceding Infections in Guillain-Barré Syndrome: The IGOS-1000 Cohortby Sonja E Leonhard on August 18, 2022 at 10:00
BACKGROUND AND OBJECTIVES: Infections play a key role in the development of Guillain-Barré syndrome (GBS) and have been associated with specific clinical features and disease severity. The clinical variation of GBS across geographical regions has been suggested to be related to differences in the distribution of preceding infections, but this has not been studied on a large scale.
- IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathyby Alexandre Jentzer on August 10, 2022 at 10:00
BACKGROUND AND OBJECTIVES: IgG4 autoantibodies to neurofascin-155 (Nfasc155) are associated with a subgroup of patients with chronic inflammatory demyelinating polyneuropathy (CIDP), currently named autoimmune nodopathy. We previously demonstrated that those antibodies alter conduction along myelinated axons by inducing Nfasc155 depletion and paranode destruction. In blood, IgG4 have the potency to exchange their moiety with other unrelated IgG4 through a process called Fab-arm exchange (FAE)....
- Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemiaby Marta Caballero-Ávila on July 10, 2022 at 10:00
The aim of this study is to evaluate the long-term efficacy, safety, and impact on immunoglobulin G (IgG) levels of rituximab in patients with myasthenia gravis (MG). A retrospective, observational study of drug-refractory MG patients treated with rituximab was done. The MG Foundation of America postintervention status (MGFA-PIS) was used to evaluate clinical response. Serum IgG levels were determined at baseline and post-treatment. Hypogammaglobulinemia was defined as IgG
- Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravisby David Reyes-Leiva on June 21, 2022 at 10:00
BACKGROUND AND OBJECTIVES: Evidence regarding the safety and efficacy of messenger RNA (mRNA) vaccines in patients with myasthenia gravis (MG) after immunosuppressive therapies is scarce. Our aim is to determine whether the mRNA-1273 vaccine is safe and able to induce humoral and cellular responses in patients with MG.
- Cognitive Performance and Health-Related Quality of Life in Patients with Neuromyelitis Optica Spectrum Disorderby Elisabet Lopez-Soley on May 28, 2022 at 10:00
Background: The frequency of cognitive impairment (CI) reported in neuromyelitis optica spectrum disorder (NMOSD) is highly variable, and its relationship with demographic and clinical characteristics is poorly understood. We aimed to describe the cognitive profile of NMOSD patients, and to analyse the cognitive differences according to their serostatus; furthermore, we aimed to assess the relationship between cognition, demographic and clinical characteristics, and other aspects linked to...
- Impact of Neuromyelitis Optica Spectrum Disorder on Quality of Life from the Patients' Perspective: An Observational Cross-Sectional Studyby José E Meca-Lallana on May 6, 2022 at 10:00
CONCLUSION: Fatigue, pain, and depressive symptoms are frequent problems among patients with NMOSD, impacting on their quality of life. Assessment of patient-oriented outcomes may be useful to achieve a holistic approach, allowing early specific interventions.
- The Role of the Complement System in Chronic Inflammatory Demyelinating Polyneuropathy: Implications for Complement-Targeted Therapiesby Luis A Querol on April 5, 2022 at 10:00
Chronic inflammatory demyelinating polyneuropathy (CIDP) is the most common, heterogeneous, immune-mediated neuropathy, characterized by predominant demyelination of motor and sensory nerves. CIDP follows a relapsing-remitting or a progressive course and causes substantial disability. The pathogenesis of CIDP involves a complex interplay of multiple aberrant immune responses, creating a pro-inflammatory environment, subsequently inflicting damage on the myelin sheath. Though the exact triggers...
- Neurofilament Light Chain Levels in Anti-NMDAR Encephalitis and Primary Psychiatric Psychosisby Mar Guasp on February 11, 2022 at 11:00
BACKGROUND AND OBJECTIVES: An important challenge in diagnosing anti-NMDA receptor (NMDAR) encephalitis (NMDARe) is differentiating it from a first episode of psychosis (FEP) caused by a psychiatric disease (pFEP). CSF antibody testing distinguishes these diseases, but spinal taps are difficult to obtain in psychiatric facilities. A separate problem is the lack of biomarkers of NMDARe severity and outcome. Here we assessed the performance of neurofilament light chain (NfL) testing in these...
- International Validation of the Erasmus Guillain-Barré Syndrome Respiratory Insufficiency Scoreby Alex Y Doets on February 2, 2022 at 11:00
OBJECTIVE: This study aimed to validate the Erasmus Guillain-Barré Syndrome Respiratory Insufficiency Score in the International Guillain-Barré Syndrome Outcome Study cohort, and to improve its performance and region-specificity.
- Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference valuesby Samuel Arends on January 26, 2022 at 11:00
CONCLUSIONS: Our study showed extensive variation in the clinical practice of EDx in GBS patients among IGOS centers across the regions.
- Frequency and clinical correlates of anti-nerve antibodies in a large population of CIDP patients included in the Italian databaseby Giuseppe Liberatore on January 20, 2022 at 11:00
CONCLUSIONS: Anti-paranodal and anti-ganglioside antibodies are infrequent in patients with CIDP but are associated with some typical clinical association supporting the hypothesis that CIDP might be a pathogenically heterogeneous syndrome possibly explaining the different clinical presentations.
- Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Scoreby Alex Y Doets on December 23, 2021 at 11:00
BACKGROUND AND OBJECTIVES: The clinical course and outcome of the Guillain-Barré syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, is a clinical model that predicts the risk of walking inability in patients with GBS. The study objective was to validate the mEGOS in the International GBS Outcome Study (IGOS) cohort and to improve its performance and region specificity.
- Optic Nerve Demyelination in IgG4 Anti-Neurofascin 155 Antibody-Positive Combined Central and Peripheral Demyelination Syndromeby Alice Verghese on December 13, 2021 at 11:00
Optic nerve demyelination is one of the clinical features of combined central and peripheral demyelination (CCPD), an entity with heterogenous immunopathogenesis and clinical characteristics, overlapping between multiple sclerosis (MS) and chronic inflammatory demyelinating polyneuropathy (CIDP). Of interest, earlier studies among patients with CIDP prior to discovery of antibodies against paranodal protein neurofascin 155 (anti-NF 155) also reported optic nerve dysfunction. We aimed to evaluate...
- Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathyby Lorena Martín-Aguilar on November 3, 2021 at 10:00
BACKGROUND AND OBJECTIVES: To study the clinical and laboratory features of antineurofascin-155 (NF155)-positive autoimmune nodopathy (AN).
- Autoantibody screening in Guillain-Barré syndromeby Cinta Lleixà on November 1, 2021 at 10:00
CONCLUSION: Our study confirms that (1) GBS patients display a heterogeneous repertoire of autoantibodies targeting nerve cells and structures; (2) gangliosides are the most frequent antigens in GBS patients and have a prognostic value; (3) further antigen-discovery experiments may elucidate other potential antigens in GBS.
- Guillain-Barré syndrome after SARS-CoV-2 infection in an international prospective cohort studyby Linda W G Luijten on September 23, 2021 at 10:00
In the wake of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, an increasing number of patients with neurological disorders, including Guillain-Barré syndrome (GBS), have been reported following this infection. It remains unclear, however, if these cases are coincidental or not, as most publications were case reports or small regional retrospective cohort studies. The International GBS Outcome Study is an ongoing prospective observational cohort study enrolling...
- Novel Immunological and Therapeutic Insights in Guillain-Barré Syndrome and CIDPby Luis Querol on September 22, 2021 at 10:00
Inflammatory neuropathies are a heterogeneous group of rare diseases of the peripheral nervous system that include acute and chronic diseases, such as Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). The etiology and pathophysiological mechanisms of inflammatory neuropathies are only partly known, but are considered autoimmune disorders in which an aberrant immune response, including cellular and humoral components, is directed towards...
- Autoimmune nodopathies: treatable neuropathies beyond traditional classificationsby Luis Querol on August 17, 2021 at 10:00
No abstract
- European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revisionby Peter Y K Van den Bergh on July 30, 2021 at 10:00
OBJECTIVE: To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).
- Quantifying the patient´s perspective in neuromyelitis optica spectrum disorder: Psychometric properties of the SymptoMScreen questionnaireby José E Meca-Lallana on July 29, 2021 at 10:00
CONCLUSIONS: The SyMS shows appropriate psychometric characteristics and may constitute a valuable and easy-to-implement option to measure symptom severity in patients with NMOSD.
- Serum Contactin-1 in CIDP: A Cross-Sectional Studyby Luuk Wieske on July 21, 2021 at 10:00
CONCLUSIONS: These findings suggest that serum contactin-1 levels have the potential to serve as a possible diagnostic biomarker of paranodal injury in CIDP.
- Charcot-Marie-Tooth disease due to MORC2 mutations in Spainby Rafael Sivera on June 30, 2021 at 10:00
CONCLUSIONS: MORC2 mutations are a rare cause of CMT in Spain, but in-depth phenotyping reveals a recognizable phenotypic spectrum that will be clinically relevant for future identification of this disease.
- Outcome measures and biomarkers in chronic inflammatory demyelinating polyradiculoneuropathy: from research to clinical practiceby Jeffrey A Allen on June 16, 2021 at 10:00
Introduction: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated syndrome characterized clinically by weakness and/or numbness that evolves over 2 months or more. The heterogeneity of clinical features necessitates an individualized approach to disease monitoring that takes lessons learned from clinical trials and applies them to clinical practice.Areas covered: This review discusses the importance of clinimetrics and biomarkers in CIDP diagnosis and disease...
- European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revisionby Peter Y K Van den Bergh on June 4, 2021 at 10:00
To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Seventeen disease experts, a patient representative, and two Cochrane methodologists constructed 12 Population/Intervention/Comparison/Outcome (PICO) questions regarding diagnosis and treatment to guide the literature search. Data were extracted and summarized in GRADE summary of findings (for treatment PICOs) or evidence tables (for diagnostic PICOs). Statements were prepared according to...
- Perception of Stigma in Patients with Neuromyelitis Optica Spectrum Disorderby Jose E Meca-Lallana on April 21, 2021 at 10:00
CONCLUSION: Stigma is a common phenomenon affecting over 6 out of 10 patients with NMOSD. Understanding stigma may be useful to develop educational strategies improving NMOSD knowledge.
- Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathyby Elba Pascual-Goñi on April 21, 2021 at 10:00
Previous studies have described the clinical, serological and pathological features of patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and antibodies directed against the paranodal proteins neurofascin-155, contactin-1 (CNTN1), contactin-associated protein-1 (Caspr1), or nodal forms of neurofascin. Such antibodies are useful for diagnosis and potentially treatment selection. However, antibodies targeting Caspr1 only or the Caspr1/CNTN1 complex have been reported in...
- Chronic inflammatory demyelinating polyneuropathy with hypertrophic nervesby Paolo Ripellino on April 21, 2021 at 10:00
We describe the distinctive features (with images and video) of a case of chronic inflammatory demyelinating polyneuropathy (CIDP) with giant nerves. The main clinical findings were insidious onset, gait ataxia and sensory symptoms. Electrodiagnostic studies showed very slow nerve conduction velocities, multiple conduction blocks, distal CMAP duration increase and absence of F-waves. The protein level in the cerebrospinal fluid was very high. Nerve ultrasound showed swelling of all peripheral...
- Clinical characteristics and outcomes of thymoma-associated myasthenia gravisby Rodrigo Álvarez-Velasco on March 15, 2021 at 10:00
CONCLUSIONS: Thymoma-associated MG patients had more severe myasthenic symptoms and worse prognosis. Thymoma recurrence was frequently associated with transient worsening of MG, but long-term prognosis did not differ from nonrecurrent thymoma. Patients with nonresectable thymoma tended to present severe forms of MG.
- Author Correction: Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathyby Elba Pascual-Goñi on February 11, 2021 at 11:00
No abstract
- Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlationby Marina Frasquet on December 28, 2020 at 11:00
CONCLUSIONS: This study confirms the genetic heterogeneity of dHMN and that biallelic SORD mutations are a cause of dHMN in different populations.