Diagnostic Challenges in Neuroimmunology

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 December 2024) | Viewed by 1580

Special Issue Editors


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1. Unité des Ataxies Cérébelleuses, Department of Neurology, Médiathèque Jean Jacquy, CHU-Charleroi, 6000 Charleroi, Belgium
2. Service des Neurosciences, University of Mons, 7000 Mons, Belgium
Interests: cerebellum; ataxias; movement disorders; neuroanatomy
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Medical Education Promotion Center, Tokyo Medical University, Tokyo 160-0023, Japan
Interests: neurophysiology; movement disorders; cerebellar diseases; immune-mediated cerebellar ataxias; cerebellar physiology; accelerometers; medical signal processing; gait analysis
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Division of Metabolism, Endocrinology and Nutrition, University of Washington, Seattle, WA, USA
Interests: GAD65 (GAD65Ab); type 1 diabetes; B lymphocytes; autoimmunity; cerebellar ataxia, stiff person syndrome

Special Issue Information

Dear Colleagues,

The field of auto-immune brain disorders is expanding at a fast pace, with an increasing prevalence of immune neurological diseases and the recognition of a major burden at the world scale. Risk factors are being increasingly recognized, including genetic determinants. In addition, the domain of epigenetics has underlined the importance of the interaction with environmental factors. Research findings are re-shaping our appraisal of immune tolerance and the intrusion of lymphocytes through the blood‒brain‒barrier as a key factor to trigger the disease. The early detection of immune neurological disease is a key step for the prevention and initiation of early therapies. Biomarkers such as auto-antibodies are particularly helpful from a diagnostic standpoint, although sero-negative diseases cannot be neglected and represent a challenging situation. In this case, a lack of sensitivity in laboratory tests, immunosuppression, and antigen exhaustion need to be considered.

This Special Issue welcomes original research, review articles, case reports, and letters in the field of neuroimmunology of the CNS and peripheral nervous system. Experimental studies starting from the bench and clinical results will be considered.

Prof. Dr. Mario Manto
Dr. Hiroshi Mitoma
Dr. Christiane Susanne Hampe
Guest Editors

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Published Papers (1 paper)

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Research

13 pages, 1975 KiB  
Article
Novel Automated Chemiluminescent Immunoassay for the Detection of Autoantibodies Against Aquaporin-4 in Neuromyelitis Optica Spectrum Disorders
by Nozomi Yamazaki, Toshiyuki Takahashi, Tatsuro Misu and Yukihiro Nishikawa
Diagnostics 2025, 15(3), 298; https://doi.org/10.3390/diagnostics15030298 - 27 Jan 2025
Viewed by 967
Abstract
Background/Objectives: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune-related neurological disease that primarily affects the optic nerve and spinal cord. According to current international consensus guidelines for NMOSD, confirming the presence of aquaporin-4 immunoglobulin G antibody (AQP4-IgG) is one of the most [...] Read more.
Background/Objectives: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune-related neurological disease that primarily affects the optic nerve and spinal cord. According to current international consensus guidelines for NMOSD, confirming the presence of aquaporin-4 immunoglobulin G antibody (AQP4-IgG) is one of the most important diagnostic criteria because AQP4-IgG is a significant diagnostic biomarker of NMOSD. Several assays are currently available for detecting AQP4-IgG, including cell-based assays (CBAs) and enzyme-linked immunosorbent assays (ELISAs). However, each assay has certain disadvantages, including insufficient sensitivity and specificity, the need for sophisticated techniques, and semi-quantitative results. Methods: We developed a fully automated chemiluminescent enzyme immunoassay (CLEIA) to detect AQP4-IgG (AQP4-CLEIA). This assay utilizes the recombinant antigen purified from the newly generated AQP4-M23 stably expressing Chinese hamster ovary cell line and an anti-AQP4 monoclonal antibody as a calibrator. Results: In analytical performance studies, the assay demonstrates good precision and linearity over the entire measurement range. Moreover, this assay showed no high-dose hook effect and interference from endogenous substances. In clinical validation studies, patients with AQP4-IgG positive NMOSD, multiple sclerosis, or myelin oligodendrocyte glycoprotein antibody-associated disorder and healthy individuals were tested. A cutoff value of 10.0 U/mL was determined by receiver operating characteristic curves based on the results of a microscopic live CBA. The sensitivity and specificity for AQP4-IgG-positive NMOSD were 97.0% and 100.0%, respectively, at the cutoff value. Conclusions: The results suggest that AQP4-CLEIA is a convenient automated method for measuring AQP4-IgG titers in hospitals and clinical laboratories, offering an effective alternative to the gold-standard CBA. Full article
(This article belongs to the Special Issue Diagnostic Challenges in Neuroimmunology)
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