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Brain Sciences
Special Issues
Immunological Implications in Neuromuscular Disorders
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Immunological Implications in Neuromuscular Disorders

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neuromuscular and Movement Disorders".

Deadline for manuscript submissions: closed (5 December 2023) | Viewed by 14529

Special Issue Editors

Dr. Filippo Brighina

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Guest Editor
Department of Biomedicine, Neuroscience and advanced Diagnostics (BIND), University of Palermo, Via del Vespro 143, 90129 Palermo, Italy
Interests: headache; neurology and neuromuscular diseases; neurology, neurorehabilitation, neuromodulation, non-invasive brain stimulation; neuroscience
Special Issues, Collections and Topics in MDPI journals
Dr. Vincenzo Di Stefano

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Guest Editor
Department of Biomedicine, Neuroscience and advanced Diagnostics (BIND), University of Palermo, Via del Vespro 143, 90129 Palermo, Italy
Interests: neuromuscular disease; neuroimmunology; neurogenetics; myasthenia gravis; ATTRv amyloidosis; clinical neurophysiology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Background & History of this topic: In the last fifty years, our knowledge has rapidly grown on immunology and immunological aspects of neuromuscular disorders. Indeed, available antibody tests for many autoimmune conditions have driven growing interest in autoimmunity, as well as the possibility to effectively treat patients affected by the autoimmune disease through new developed and emerging target therapies (i.e., Rituximab, Eculizumab, etc.) for the treatment of Myasthenia Gravis and Chronic inflammatory Demyelinating Polyradiculoneuropathy. On the other side, the description of an immunological basis with specific diagnostic antibody testing for relevant conditions such as “Stiff person syndrome”, “Isaacs syndrome” and other “paraneoplastic syndromes”, might have contributed to this revolution. Moreover, the recent use of Immune Checkpoint Inhibitors for the treatment of malignancies in Oncology has concurred to the observance and description of several neurological complications never reported before. This has conducted neurologists to a scenario in which acquired immunological neuromuscular conditions are probably overcoming degenerative neuromuscular and inherited disorders in clinical practice.

Aim and Scope of the Special Issue: to enhance and report recent evidence on immunological aspects of neuromuscular disorders.

Cutting-edge research: papers on targets therapies (Rituximab, Eculizumab, other monoclonal antibodies for autoimmune neuromuscular disorders) or Immune Checkpoint Inhibitors in malignances are welcome. Studies deepening immunopathogenesis or immunological biomarkers or antibody testing in neuromuscular diseases. Studies exploring the relationship between autoimmunity and vaccines in neuromuscular disorders.

What kind of papers we are soliciting: original articles, systematic reviews.

Dr. Filippo Brighina
Dr. Vincenzo Di Stefano
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neuromuscular
  • autoimmunity
  • myasthenia gravis
  • polyneuropathy
  • immune checkpoint inhibitors
  • rituximab
  • steroid-sparing agents
  • antibody testing
  • Guillan-Barré syndrome
  • paraneoplastic syndromes.

Published Papers (7 papers)

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Editorial

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3 pages, 171 KiB  
Editorial
Autoimmune Neuromuscular Disorders: Emerging Insights and Future Frontiers
by Vincenzo Di Stefano and Filippo Brighina
Brain Sci. 2024, 14(3), 270; https://doi.org/10.3390/brainsci14030270 - 12 Mar 2024
Viewed by 706
Abstract
In recent years, our knowledge rapidly increased with respect to the immunology and immunological aspects of neuromuscular disorders [...]. Full article
(This article belongs to the Special Issue Immunological Implications in Neuromuscular Disorders)

Research

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12 pages, 503 KiB  
Article
Frequency and Correlates of Mild Cognitive Impairment in Myasthenia Gravis
by Salvatore Iacono, Vincenzo Di Stefano, Vanessa Costa, Giuseppe Schirò, Antonino Lupica, Bruna Maggio, Davide Norata, Antonia Pignolo, Filippo Brighina and Roberto Monastero
Brain Sci. 2023, 13(2), 170; https://doi.org/10.3390/brainsci13020170 - 19 Jan 2023
Cited by 4 | Viewed by 2688
Abstract
Background: Antibodies against acetylcholine receptors (AChRs) can also target nicotinic AChRs that are present throughout the central nervous system, thus leading to cognitive dysfunctions in patients with myasthenia gravis (MG). However, the presence of cognitive impairment in MG is controversial, and the factors [...] Read more.
Background: Antibodies against acetylcholine receptors (AChRs) can also target nicotinic AChRs that are present throughout the central nervous system, thus leading to cognitive dysfunctions in patients with myasthenia gravis (MG). However, the presence of cognitive impairment in MG is controversial, and the factors that may influence this risk are almost completely unknown. In this study, the frequency of mild cognitive impairment (MCI) in MG, as well as the clinical, immunological, and behavioral correlates of MCI in MG were evaluated. Methods: A total of 52 patients with MG underwent a comprehensive assessment including motor and functional scales, serological testing, and neuropsychological and behavioral evaluation. Results: The frequency of MCI was 53.8%, and the most impaired cognitive domains were, in order, visuoconstructive/visuospatial skills, memory, and attention. After multivariate analysis, only pyridostigmine use was inversely associated with the presence of MCI, while a trend toward a positive association between MCI and disease severity and arms/legs hyposthenia was found. Correlation analyses showed that daily doses of prednisone and azathioprine significantly correlated with depressive symptomatology, while disease severity significantly correlated with depressive symptomatology and sleep disturbance. Conclusions: The presence of MCI is rather frequent in MG and is characterized by multidomain amnestic impairment. Such preliminary data need further confirmation on larger case series. Full article
(This article belongs to the Special Issue Immunological Implications in Neuromuscular Disorders)
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8 pages, 259 KiB  
Article
Serum Inflammatory Profile in Hereditary Transthyretin Amyloidosis: Mechanisms and Possible Therapeutic Implications
by Marco Luigetti, Angela Romano, Valeria Guglielmino, Maria Ausilia Sciarrone, Francesca Vitali, Carmine Carbone, Geny Piro, Andrea Sabino, Nicola De Stefano, Domenico Plantone and Guido Primiano
Brain Sci. 2022, 12(12), 1708; https://doi.org/10.3390/brainsci12121708 - 12 Dec 2022
Cited by 2 | Viewed by 1296
Abstract
Hereditary transthyretin (ATTRv) amyloidosis is a severe, progressive, and heterogeneous multisystemic condition due to mutations in the TTR gene. Although multiple aspects of its molecular pathophysiological mechanisms have been elucidated over the years, it is possible to hypothesize different pathogenetic pathways. Indeed, we [...] Read more.
Hereditary transthyretin (ATTRv) amyloidosis is a severe, progressive, and heterogeneous multisystemic condition due to mutations in the TTR gene. Although multiple aspects of its molecular pathophysiological mechanisms have been elucidated over the years, it is possible to hypothesize different pathogenetic pathways. Indeed, we extensively investigated the serum levels of several molecules involved in the immune response, in a cohort of ATTRv patients and healthy controls (HCs). Sixteen ATTRv patients and twenty-five HCs were included in the study. IFN-alpha levels were higher in ATTRv patients than in HCs, as well as IFN-gamma levels. By contrast, IL-7 levels were lower in ATTRv patients than in HCs. No significant difference between groups was found regarding IL-1Ra, IL-6, IL-2, IL-4, and IL-33 levels. Correlation analysis did not reveal any significant correlation between IFN-α, IFN-γ, IL-7, and demographic and clinical data. Larger and longitudinal studies using ultrasensitive methods to perform a full cytokine profiling are needed to better elucidate the role of inflammation in ATTRv pathogenesis and to test the reliability of these molecules as possible biomarkers in monitoring patients’ progression. Full article
(This article belongs to the Special Issue Immunological Implications in Neuromuscular Disorders)
7 pages, 236 KiB  
Article
Single-Center Retrospective Analysis of Paraneoplastic Syndromes with Peripheral Nerve Damage
by Jing Tian, Cuifang Cao, Ruihan Miao, Haoran Wu, Kun Zhang, Binbin Wang, Zhou Zhou, Ruomeng Chen and Xiaoyun Liu
Brain Sci. 2022, 12(12), 1656; https://doi.org/10.3390/brainsci12121656 - 02 Dec 2022
Cited by 1 | Viewed by 1074
Abstract
There are few clinical and electrophysiological studies on paraneoplastic neurological syndrome (PNS) with peripheral nerve damage, which brings great challenges to clinical identification and diagnosis. We analyzed the clinical and electrophysiological data of twenty-five confirmed PNS cases using peripheral nerve damage patients. The [...] Read more.
There are few clinical and electrophysiological studies on paraneoplastic neurological syndrome (PNS) with peripheral nerve damage, which brings great challenges to clinical identification and diagnosis. We analyzed the clinical and electrophysiological data of twenty-five confirmed PNS cases using peripheral nerve damage patients. The results showed the most common chief complaint was weakness (20/25, 80%), followed by numbness (13/25, 52%). Nineteen patients (76%) exhibited peripheral nervous system lesions prior to occult tumors, and the median time from symptom onset to the diagnosis of a tumor was 4 months. The electrophysiological results revealed a higher rate of abnormal amplitudes than latency or conduction velocity, especially in sensory nerves. Meanwhile, we found that, compared with patients >65 y, patients aged ≤65 y exhibited more chronic onset (p = 0.01) and longer disease duration (p = 0.01), more motor nerve involvements (p = 0.02), more amplitude involvement (p = 0.01), and higher rates of the inability to walk independently at presentation (p = 0.02). The present study construed that weakness and paresthesia are common symptoms in PNS with peripheral nerve damage in some areas, and the electrophysiological results mainly changed in amplitude. Tumor screening in young and middle-aged patients with peripheral neuropathy cannot be ignored. Full article
(This article belongs to the Special Issue Immunological Implications in Neuromuscular Disorders)
8 pages, 238 KiB  
Communication
Paraneoplastic Amyotrophic Lateral Sclerosis: Case Series and Literature Review
by Zhao Yang, Lu He, Manli Ren, Yizhou Lu, Huanyu Meng, Dou Yin, Sheng Chen and Qinming Zhou
Brain Sci. 2022, 12(8), 1053; https://doi.org/10.3390/brainsci12081053 - 08 Aug 2022
Cited by 3 | Viewed by 2241
Abstract
Paraneoplastic amyotrophic lateral sclerosis (ALS) is a rare and special type of ALS. The pathogenesis, clinical presentation, treatment and prognosis remain poorly understood. We herein presented three cases of paraneoplastic ALS. In case 1, we first reported an ALS patient with the positive [...] Read more.
Paraneoplastic amyotrophic lateral sclerosis (ALS) is a rare and special type of ALS. The pathogenesis, clinical presentation, treatment and prognosis remain poorly understood. We herein presented three cases of paraneoplastic ALS. In case 1, we first reported an ALS patient with the positive serum antibodies against both Sry-like high mobility group box 1 (SOX1) and glutamic acid decarboxylase 65 (GAD65). However, immunotherapy did not improve his neurological symptoms. We also reported two ALS patients with renal clear cell carcinoma and chronic myelogenous leukemia. No positive paraneoplastic antibodies were detected in either the serum or the cerebrospinal fluid of the two patients, and their clinical symptoms progressed slowly after tumor treatment. The three cases enriched the existing case pool of this rare disorder. In addition, we have comprehensively reviewed the literature of paraneoplastic ALS. The clinical features, treatment effect and prognosis were summarized to broaden our understanding of paraneoplastic ALS. Full article
(This article belongs to the Special Issue Immunological Implications in Neuromuscular Disorders)

Review

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16 pages, 339 KiB  
Review
Value of Antibody Determinations in Chronic Dysimmune Neuropathies
by Stefano Tozza, Emanuele Spina, Aniello Iovino, Rosa Iodice, Raffaele Dubbioso, Lucia Ruggiero, Maria Nolano and Fiore Manganelli
Brain Sci. 2023, 13(1), 37; https://doi.org/10.3390/brainsci13010037 - 23 Dec 2022
Cited by 1 | Viewed by 2013
Abstract
Chronic dysimmune neuropathies encompass a group of neuropathies that share immune-mediated pathomechanism. Chronic dysimmune antibody-related neuropathies include anti-MAG neuropathy, multifocal motor neuropathy, and neuropathies related to immune attack against paranodal antigens. Such neuropathies exhibit distinguishing pathomechanism, clinical and response to therapy features with [...] Read more.
Chronic dysimmune neuropathies encompass a group of neuropathies that share immune-mediated pathomechanism. Chronic dysimmune antibody-related neuropathies include anti-MAG neuropathy, multifocal motor neuropathy, and neuropathies related to immune attack against paranodal antigens. Such neuropathies exhibit distinguishing pathomechanism, clinical and response to therapy features with respect to chronic inflammatory demyelinating polyradiculoneuropathy and its variants, which represent the most frequent form of chronic dysimmune neuropathy. This narrative review provides an overview of pathomechanism; clinical, electrophysiological, and biochemical features; and treatment response of the antibody-mediated neuropathies, aiming to establish when and why to look for antibodies in chronic dysimmune neuropathies. Full article
(This article belongs to the Special Issue Immunological Implications in Neuromuscular Disorders)

Other

8 pages, 966 KiB  
Case Report
A Case of Anti-GAD 65 Autoimmune Encephalitis Associated with Focal Segmental Stiff-Person Syndrome
by Chen Zhang, Yuwei Dai, Binhong Han, Jian Peng, Jie Ma, Qi Tang and Li Yang
Brain Sci. 2023, 13(2), 369; https://doi.org/10.3390/brainsci13020369 - 20 Feb 2023
Cited by 1 | Viewed by 3183
Abstract
Glutamic acid decarboxylase (GAD) antibody-related encephalitis is an autoimmune disease associated with intracellular neuronal antigens. We report on a rare case of GAD antibody-associated encephalitis complicated with focal segmental stiffness-person syndrome (SPS) in a middle-aged woman. The disease course lasted for >10 years, [...] Read more.
Glutamic acid decarboxylase (GAD) antibody-related encephalitis is an autoimmune disease associated with intracellular neuronal antigens. We report on a rare case of GAD antibody-associated encephalitis complicated with focal segmental stiffness-person syndrome (SPS) in a middle-aged woman. The disease course lasted for >10 years, initially presenting with drug-resistant epilepsy, followed by stiffness of the right lower limb, and right upper limb involvement. The patient experienced anxiety and depression symptoms due to long-term illness. During hospitalization, serum and cerebrospinal fluid GAD antibodies were positive and no tumor was found. The symptoms were significantly relieved after corticosteroid therapy and intravenous immunoglobulin immunomodulation therapy. To the best of our knowledge, this case is the first to discuss the early recognition and treatment of chronic epilepsy and focal segmental SPS caused by anti-GAD antibody-related encephalitis. Full article
(This article belongs to the Special Issue Immunological Implications in Neuromuscular Disorders)
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