scholarly journals Metabolomic Profiling in Neuromyelitis Optica Spectrum Disorder Biomarker Discovery

Metabolites ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 374
Author(s):  
Maxton E. Thoman ◽  
Susan C. McKarns
Keyword(s):  
Neuromyelitis Optica ◽  
Biomarker Discovery ◽  
Clinical Symptoms ◽  
Water Channel ◽  
Short Chain Fatty Acids ◽  
Spectrum Disorder ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Specific Test ◽  
Metabolomic Profiling ◽  
The Central Nervous System

There is no specific test for diagnosing neuromyelitis optica spectrum disorder (NMOSD), a disabling autoimmune disease of the central nervous system. Instead, diagnosis relies on ruling out other related disorders with overlapping clinical symptoms. An urgency for NMOSD biomarker discovery is underscored by adverse responses to treatment following misdiagnosis and poor prognosis following the delayed onset of treatment. Pathogenic autoantibiotics that target the water channel aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) contribute to NMOSD pathology. The importance of early diagnosis between AQP4-Ab+ NMOSD, MOG-Ab+ NMOSD, AQP4-Ab− MOG-Ab− NMOSD, and related disorders cannot be overemphasized. Here, we provide a comprehensive data collection and analysis of the currently known metabolomic perturbations and related proteomic outcomes of NMOSD. We highlight short chain fatty acids, lipoproteins, amino acids, and lactate as candidate diagnostic biomarkers. Although the application of metabolomic profiling to individual NMOSD patient care shows promise, more research is needed.

scholarly journals Neuromyelitis optica spectrum disorder in pediatrics. Case report

Case reports ◽  
2019 ◽  
Vol 5 (1) ◽  
pp. 11-18
Author(s):  
Jhon Camacho ◽  
Sebastian Zuleta ◽  
Maria Paula Alba ◽  
Andrea Hernandez ◽  
Carlos Navas
Keyword(s):  
Neuromyelitis Optica ◽  
Interesting Case ◽  
Spectrum Disorder ◽  
Demyelinating Diseases ◽  
Inflammatory Disorder ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
The Central Nervous System ◽  
High Doses ◽  
Aqp4 Antibody ◽  
Timely Treatment

Introduction: Neuromyelitis optica is an inflammatory disorder of the central nervous system that accounts for 5% of demyelinating diseases in pediatrics. Its clinical presentation is variable and associated to the involved area of the central nervous system.Case presentation: This is the case of a 15-year-old patient who consulted several times for nonspecific neurological symptoms. During his last visit to the Clínica Universitaria Colombia in Bogotá, he presented with bilateral optic neuritis, associated with frontal and parietal headache. Immunophenotyping studies were carried out, reporting positive IgG anti-aquaporin 4 antibodies (anti-AQP4 antibody), thus leading to a diagnosis of seropositive neuromyelitis optica spectrum disorder (NMOSD). Management with methylprednisolone pulses was initiated with subsequent outpatient management with rituximab that allowed stabilizing the disease.Discussion: This is an interesting case due to its insidious and uncertain onset in a pediatric patient. It was possible to evaluate clinical and diagnostic differences in relation to its presentation in adults. NMOSD mediated by anti-AQP4 is rare; brain and bone marrow MRI are essential for diagnosis. The treatment of choice for acute conditions consists of high doses of methylprednisolone.Conclusion: This disorder may result in irreversible neurological damage; for this reason, high suspicion is required for early diagnosis and timely treatment.

Eculizumab in the treatment of neuromyelitis optica spectrum disorder

Immunotherapy ◽  
2020 ◽  
Vol 12 (14) ◽  
pp. 1053-1066
Author(s):  
Katrin Giglhuber ◽  
Achim Berthele
Keyword(s):  
Neuromyelitis Optica ◽  
Controlled Trial ◽  
Water Channel ◽  
Spectrum Disorder ◽  
Phase Iii ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Humanized Monoclonal Antibody ◽  
The Complement System ◽  
Terminal Complement ◽  
Aqp4 Antibody

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease of the CNS which is distinct from multiple sclerosis and typically presents with a relapsing course of optic neuritis, myelitis and midline brain inflammatory lesions. In at least two-thirds of cases, antibodies against the water channel AQP4 can be found, which lead to an antibody-mediated activation of the complement system with consecutive damage to neuronal structures. Eculizumab, a humanized monoclonal antibody against the terminal complement component 5, was shown to significantly reduce the risk of NMOSD relapse in a Phase III placebo-controlled trial. Based on this, eculizumab (Soliris®) was the first drug to be formally approved for the treatment of anti-AQP4-antibody positive NMOSD in 2019.

scholarly journals Neuromyelitis Optica Spectrum Disorder and Anti-MOG Syndromes

Biomedicines ◽  
2019 ◽  
Vol 7 (2) ◽  
pp. 42 ◽  
Author(s):  
Marco A. Lana-Peixoto ◽  
Natália Talim
Keyword(s):  
Optic Neuritis ◽  
Neuromyelitis Optica ◽  
Area Postrema ◽  
Water Channel ◽  
Clinical Manifestations ◽  
Transverse Myelitis ◽  
Myelin Oligodendrocyte Glycoprotein ◽  
Immunosuppressive Drugs ◽  
Spectrum Disorder ◽  
Neuromyelitis Optica Spectrum Disorder

Neuromyelitis optica spectrum disorder (NMOSD) and anti-myelin oligodendrocyte glycoprotein (anti-MOG) syndromes are immune-mediated inflammatory conditions of the central nervous system that frequently involve the optic nerves and the spinal cord. Because of their similar clinical manifestations and habitual relapsing course they are frequently confounded with multiple sclerosis (MS). Early and accurate diagnosis of these distinct conditions is relevant as they have different treatments. Some agents used for MS treatment may be deleterious to NMOSD. NMOSD is frequently associated with antibodies which target aquaporin-4 (AQP4), the most abundant water channel in the CNS, located in the astrocytic processes at the blood-brain barrier (BBB). On the other hand, anti-MOG syndromes result from damage to myelin oligodendrocyte glycoprotein (MOG), expressed on surfaces of oligodendrocytes and myelin sheaths. Acute transverse myelitis with longitudinally extensive lesion on spinal MRI is the most frequent inaugural manifestation of NMOSD, usually followed by optic neuritis. Other core clinical characteristics include area postrema syndrome, brainstem, diencephalic and cerebral symptoms that may be associated with typical MRI abnormalities. Acute disseminated encephalomyelitis and bilateral or recurrent optic neuritis are the most frequent anti-MOG syndromes in children and adults, respectively. Attacks are usually treated with steroids, and relapses prevention with immunosuppressive drugs. Promising emerging therapies for NMOSD include monoclonal antibodies and tolerization.

scholarly journals Plasma complement biomarkers distinguish multiple sclerosis and neuromyelitis optica spectrum disorder

2016 ◽  
Vol 23 (7) ◽  
pp. 946-955 ◽  
Author(s):  
Svetlana Hakobyan ◽  
Sebastian Luppe ◽  
David RS Evans ◽  
Katharine Harding ◽  
Samantha Loveless ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Neuromyelitis Optica ◽  
Unmet Need ◽  
Area Under The Curve ◽  
Spectrum Disorder ◽  
Demyelinating Diseases ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Complement Proteins ◽  
Activation Products ◽  
The Central Nervous System

Background: Multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) are autoimmune inflammatory demyelinating diseases of the central nervous system. Although distinguished by clinicoradiological and demographic features, early manifestations can be similar complicating management. Antibodies against aquaporin-4 support the diagnosis of NMOSD but are negative in some patients. Therefore, there is unmet need for biomarkers that enable early diagnosis and disease-specific intervention. Objective: We investigated whether plasma complement proteins are altered in MS and NMOSD and provide biomarkers that distinguish these diseases. Methods: Plasma from 54 NMOSD, 40 MS and 69 control donors was tested in multiplex assays measuring complement activation products and proteins. Using logistic regression, we tested whether combinations of complement analytes distinguished NMOSD from controls and MS. Results: All activation products were elevated in NMOSD compared to either control or MS. Four complement proteins (C1inh, C1s, C5 and FH) were higher in NMOSD compared to MS or controls. A model comprising C1inh and terminal complement complex (TCC) distinguished NMOSD from MS (area under the curve (AUC): 0.98), while C1inh and C5 distinguished NMOSD from controls (AUC: 0.94). Conclusion: NMOSD is distinguished from MS by plasma complement biomarkers. Selected complement analytes enable differential diagnosis. Findings support trials of anti-complement therapies in NMOSD.

scholarly journals Case Report: Postvaccination Anti–Myelin Oligodendrocyte Glycoprotein Neuromyelitis Optica Spectrum Disorder

2020 ◽  
Vol 22 (2) ◽  
pp. 85-90 ◽  
Author(s):  
Neha Kumar ◽  
Kelsey Graven ◽  
Nancy I. Joseph ◽  
John Johnson ◽  
Scott Fulton ◽  
...  
Keyword(s):  
Neuromyelitis Optica ◽  
Transverse Myelitis ◽  
First Trimester ◽  
Acute Disseminated Encephalomyelitis ◽  
Myelin Oligodendrocyte Glycoprotein ◽  
Spectrum Disorder ◽  
Aquaporin 4 ◽  
Future Research ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
The Central Nervous System

Abstract Stimulation of the immune response after vaccination can occasionally result in adverse effects, including demyelination of the central nervous system. The most common presentation of postvaccination demyelination is acute disseminated encephalomyelitis, but cases of optic neuritis, transverse myelitis, and multiple sclerosis relapses have been reported. More recently, an increasing number of postvaccination neuromyelitis optica spectrum disorder (NMOSD) cases have surfaced in the literature, especially in patients with aquaporin-4 antibodies. In this article, we report an unusual case of myelin oligodendrocyte glycoprotein antibody–related NMOSD after the receipt of multiple vaccines in a first-trimester pregnant woman from Africa. We review the reported cases of postvaccination demyelination in the past decade, with a focus on the relationship between NMOSD and vaccination in patients with aquaporin-4 or myelin oligodendrocyte glycoprotein antibodies. Finally, we discuss the clinical relevance of the present case and similar reported cases as it relates to patient care in the neuroimmunology clinic and identify potential areas for future research.

Diagnostic Challenges in Pediatric Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorder

2017 ◽  
Vol 16 (03) ◽  
pp. 185-191
Author(s):  
Brenda Banwell ◽  
Anusha Yeshokumar
Keyword(s):  
Multiple Sclerosis ◽  
Neuromyelitis Optica ◽  
Spectrum Disorder ◽  
First Episode ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Pediatric Multiple Sclerosis ◽  
Mri Features ◽  
The Central Nervous System ◽  
Mog Antibodies ◽  
Magnetic Resonance Imaging Mri

AbstractThis review highlights the most common presentations of demyelination of the central nervous system (CNS, termed acquired demyelinating syndrome) in children, the difficulty in determining whether the first episode represents a monophasic/transient illness or relapsing disease, and the potential underlying etiologies that must be considered, including multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and disorders associated with antibodies to myelin oligodendrocyte glycoprotein (MOG) antibodies. The initial clinical and magnetic resonance imaging (MRI) features, as well as those observed over time, are highlighted, emphasizing the distinct and overlapping features of each of these disorders.

An uncommon cause of vertigo: Neuromyelitis optica spectrum disorder

2021 ◽  
pp. 014556132110533
Author(s):  
Kuan-Ling Lin ◽  
Ching-Yu Yang ◽  
Wen-Ko Su
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Neuromyelitis Optica ◽  
Spectrum Disorder ◽  
Atypical Presentation ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Positive Serum ◽  
The Central Nervous System ◽  
Aquaporin 4 Antibody

Neuromyelitis optica spectrum disorder (NMOSD) is an uncommon antibody-mediated disease of the central nervous system. Its classic presentation includes long segments of spinal cord inflammation, optic neuritis with or without intractable vomiting, and hiccups. Here, we described a case of a 39-year-old woman with an atypical presentation of vertigo, which was finally diagnosed as NMOSD by a positive serum aquaporin-4 antibody.

Analysis of site-specific glycan profiles of serum proteins in patients with multiple sclerosis or neuromyelitis optica spectrum disorder - a pilot study

Glycobiology ◽  
2021 ◽  
Author(s):  
Peng Peng Ip ◽  
Qiongyu Li ◽  
Wei-Han Lin ◽  
Chien-Ching Chang ◽  
Cathy Shen-Jang Fann ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Neuromyelitis Optica ◽  
Serum Proteins ◽  
Clinical Symptoms ◽  
Spectrum Disorder ◽  
Response To Treatment ◽  
Receiver Operating Curve ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Disease Etiology ◽  
Site Specific

Abstract Glycosylation is important for biological functions of proteins and greatly affected by diseases. Exploring the glycosylation profile of the protein–specific glycosylation and/or the site-specific glycosylation may help understand disease etiology, differentiate diseases, and ultimately develop therapeutics. Patients with multiple sclerosis (MS) and patients with neuromyelitis optica spectrum disorder (NMOSD) are sometimes difficult to differentiate due to the similarity in their clinical symptoms. The disease-related glycosylation profiles of MS and NMOSD have not yet been well studied. Here, we analyzed site-specific glycan profiles of serum proteins of these patients by using a recently developed mass spectrometry technique. A total of 286 glycopeptides from 49 serum glycoproteins were quantified and compared between healthy controls (n = 6), remitting MS (n = 45) and remitting NMOSD (n = 23) patients. Significant differences in the levels of site-specific N-glycans on inflammation-associated components [IgM, IgG1, IgG2, complement components 8b (CO8B), attractin], central nerve system-damage-related serum proteins [apolipoprotein D (APOD), alpha-1-antitrypsin, plasma kallikrein and ADAMTS-like protein 3] were observed among three study groups. We furthered demonstrated that site-specific N-glycans on APOD on site 98, CO8B on sites 243 and 553 are potential markers to differentiate MS from NMOSD with an area under receiver operating curve value greater than 0.75. All these observations indicate that remitting MS or NMOSD patients possess a unique disease-associated glyco-signature in their serum proteins. We conclude that monitoring one’s serum protein glycan profile using this high-throughput analysis may provide an additional diagnostic criterion for differentiating diseases, monitoring disease status and estimating response-to-treatment effect.

Association of cigarette smoking with neuromyelitis opticaimmunoglobulin G sero-positivity in neuromyelitis optica spectrum disorder

2019 ◽  
Author(s):  
Sharareh Eskandarieh ◽  
Abdorreza Naser Moghadasi ◽  
Mohammad Ali Sahraiain ◽  
Amir Reza Azimi ◽  
Negar Molazadeh
Keyword(s):  
Cigarette Smoking ◽  
Neuromyelitis Optica ◽  
Demyelinating Disease ◽  
Water Channel ◽  
Cross Sectional Study ◽  
Spectrum Disorder ◽  
Enzyme Linked Immunosorbent Assay ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Cross Sectional ◽  
Tertiary Referral Center

Background: Neuromyelitis optica spectrum disorder (NMOSD) is a neuroinflammatory demyelinating disease caused by the presence of a highly specific serum autoantibody marker, NMO-immunoglobulin G (NMO-IgG), that reacts against the water channel aquaporin-4 (AQP4). The present study examined the association between NMO-IgG sero-positivity and environmental factors such as cigarette smoking. Methods: A cross-sectional study was conducted in Sina Hospital, a tertiary referral center in Tehran, Iran. All the patients with a definite diagnosis of NMOSD were involved in this study. The enzyme-linked immunosorbent assay (ELISA) was used to examine the AQP4-IgG status. To assess the association between NMO-IgG sero-positivity and cigarette smoking, a researcher-made questionnaire covering patients’ lifestyle information on smoking habits was designed and administered using the structured face-to-face interviews with the patients. Results: The positive and negative NMO-IgG results were found in 44 (46.8%) and 50 (53.2%) patients, respectively. The increased NMO-IgG sero-positivity odds were observed among the lifetime smokers [odds ratio (OR) = 3.24, 95% confidence interval (CI): 1.16-9.08], current smokers (OR = 6.08, 95% CI: 1.26-29.39), and passive smokers (OR = 2.22, 95% CI: 1.10-4.50). Conclusion: Lifetime and current smoking as well as passive smoking can be regarded as risk factors for NMO-IgG sero-positivity. Smoking with its immunological effects can lead to the production of autoantibodies such as NMO-IgG. 

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