scholarly journals Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis

Neurology ◽  
2017 ◽  
Vol 88 (13) ◽  
pp. 1235-1242 ◽  
Author(s):  
Estefanía Torres-Vega ◽  
Nuria Mancheño ◽  
Arantxa Cebrián-Silla ◽  
Vicente Herranz-Pérez ◽  
María J. Chumillas ◽  
...  
Keyword(s):  
Cell Surface ◽  
Myasthenia Gravis ◽  
Neuronal Cell ◽  
Clinical Implications ◽  
Class Iii ◽  
Cell Surface Antigens ◽  
Neurologic Diseases ◽  
Deleted In Colorectal Carcinoma ◽  
Receptor Antibodies

Objective:To identify cell-surface antibodies in patients with neuromyotonia and to describe the main clinical implications.Methods:Sera of 3 patients with thymoma-associated neuromyotonia and myasthenia gravis were used to immunoprecipitate and characterize neuronal cell-surface antigens using reported techniques. The clinical significance of antibodies against precipitated proteins was assessed with sera of 98 patients (neuromyotonia 46, myasthenia gravis 52, thymoma 42; 33 of them with overlapping syndromes) and 219 controls (other neurologic diseases, cancer, and healthy volunteers).Results:Immunoprecipitation studies identified 3 targets, including the Netrin-1 receptors DCC (deleted in colorectal carcinoma) and UNC5A (uncoordinated-5A) as well as Caspr2 (contactin-associated protein-like 2). Cell-based assays with these antigens showed that among the indicated patients, 9 had antibodies against Netrin-1 receptors (7 with additional Caspr2 antibodies) and 5 had isolated Caspr2 antibodies. Only one of the 219 controls had isolated Caspr2 antibodies with relapsing myelitis episodes. Among patients with neuromyotonia and/or myasthenia gravis, the presence of Netrin-1 receptor or Caspr2 antibodies predicted thymoma (p < 0.05). Coexisting Caspr2 and Netrin-1 receptor antibodies were associated with concurrent thymoma, myasthenia gravis, and neuromyotonia, often with Morvan syndrome (p = 0.009). Expression of DCC, UNC5A, and Caspr2 proteins was demonstrated in paraffin-embedded thymoma samples (3) and normal thymus.Conclusions:Antibodies against Netrin-1 receptors (DCC and UNC5a) and Caspr2 often coexist and associate with thymoma in patients with neuromyotonia and myasthenia gravis.Classification of evidence:This study provides Class III evidence that antibodies against Netrin-1 receptors can identify patients with thymoma (sensitivity 21.4%, specificity 100%).

scholarly journals Detection and Characterization of Autoantibodies to Neuronal Cell-Surface Antigens in the Central Nervous System

2016 ◽  
Vol 9 ◽  
Author(s):  
Marleen H. van Coevorden-Hameete ◽  
Maarten J. Titulaer ◽  
Marco W. J. Schreurs ◽  
Esther de Graaff ◽  
Peter A. E. Sillevis Smitt ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Cell Surface ◽  
Neuronal Cell ◽  
Surface Antigens ◽  
Cell Surface Antigens ◽  
The Central Nervous System

scholarly journals Autoantibody-associated psychiatric syndromes: a systematic literature review resulting in 145 cases

2020 ◽  
pp. 1-12 ◽  
Author(s):  
Dominique Endres ◽  
Viktoria Maier ◽  
Frank Leypoldt ◽  
Klaus-Peter Wandinger ◽  
Belinda Lennox ◽  
...  
Keyword(s):  
Literature Review ◽  
Cell Surface ◽  
Systematic Literature Review ◽  
Case Reports ◽  
Neuronal Cell ◽  
Autoimmune Encephalitis ◽  
Immunomodulatory Drugs ◽  
Cell Surface Antigens ◽  
Medline Search ◽  
Neurodegenerative Dementia

Abstract Background Autoimmune encephalitis (AE) is an important consideration during the diagnostic work-up of secondary mental disorders. Indeed, isolated psychiatric syndromes have been described in case reports of patients with underlying AE. Therefore, the authors performed a systematic literature review of published cases with AE that have predominant psychiatric/neurocognitive manifestations. The aim of this paper is to present the clinical characteristics of these patients. Methods The authors conducted a systematic Medline search via Ovid, looking for case reports/series of AEs with antineuronal autoantibodies (Abs) against cell surface/intracellular antigens combined with predominant psychiatric/neurocognitive syndromes. The same was done for patients with Hashimoto encephalopathy/SREAT. Only patients with signs of immunological brain involvement or tumors in their diagnostic investigations or improvement under immunomodulatory drugs were included. Results We identified 145 patients with AE mimicking predominant psychiatric/neurocognitive syndromes. Of these cases, 64% were female, and the mean age among all patients was 43.9 (±22.1) years. Most of the patients had Abs against neuronal cell surface antigens (55%), most frequently against the NMDA-receptor (N = 46). Amnestic/dementia-like (39%) and schizophreniform (34%) syndromes were the most frequently reported. Cerebrospinal fluid changes were found in 78%, electroencephalography abnormalities in 61%, and magnetic resonance imaging pathologies in 51% of the patients. Immunomodulatory treatment was performed in 87% of the cases, and 94% of the patients responded to treatment. Conclusions Our findings indicate that AEs can mimic predominant psychiatric and neurocognitive disorders, such as schizophreniform psychoses or neurodegenerative dementia, and that affected patients can be treated successfully with immunomodulatory drugs.

scholarly journals Argonaute Autoantibodies as Biomarkers in Autoimmune Neurologic Diseases

2021 ◽  
Vol 8 (5) ◽  
pp. e1032
Author(s):  
Le-Duy Do ◽  
Christian P. Moritz ◽  
Sergio Muñiz-Castrillo ◽  
Anne-Laurie Pinto ◽  
Yannick Tholance ◽  
...  
Keyword(s):  
Protein Microarrays ◽  
Class Iii ◽  
Neurologic Disorder ◽  
Neurologic Diseases ◽  
Argonaute Proteins ◽  
Systemic Autoimmunity ◽  
Clinical Presentations ◽  
The Family ◽  
Novel Biomarkers

ObjectiveTo identify and characterize autoantibodies (Abs) as novel biomarkers for an autoimmune context in patients with central and peripheral neurologic diseases.MethodsTwo distinct approaches (immunoprecipitation/mass spectrometry–based proteomics and protein microarrays) and patients' sera and CSF were used. The specificity of the identified target was confirmed by cell-based assay (CBA) in 856 control samples.ResultsUsing the 2 methods as well as sera and CSF of patients with central and peripheral neurologic involvement, we identified Abs against the family of Argonaute proteins (mainly AGO1 and AGO2), which were already reported in systemic autoimmunity. AGO-Abs were mostly of immunoglobulin G 1 subclass and conformation dependent. Using CBA, AGO-Abs were detected in 21 patients with a high suspicion of autoimmune neurologic diseases (71.4% were women; median age 57 years) and only in 4/856 (0.5%) controls analyzed by CBA (1 diagnosed with small-cell lung cancer and the other 3 with Sjögren syndrome). Among the 21 neurologic patients identified, the main clinical presentations were sensory neuronopathy (8/21, 38.1%) and limbic encephalitis (6/21, 28.6%). Fourteen patients (66.7%) had autoimmune comorbidities and/or co-occurring Abs, whereas AGO-Abs were the only autoimmune biomarker for the remaining 7/21 (33.3%). Thirteen (61.9%) patients were treated with immunotherapy; 8/13 (61.5%) improved, and 3/13 (23.1%) remained stable, suggesting an efficacy of these treatments.ConclusionsAGO-Abs might be potential biomarkers of autoimmunity in patients with central and peripheral nonparaneoplastic neurologic diseases. In 7 patients, AGO-Abs were the only biomarkers; thus, their identification may be useful to suspect the autoimmune character of the neurologic disorder.Classification of EvidenceThis study provides Class III evidence that AGO-Abs are more frequent in patients with autoimmune neurologic diseases than controls.

scholarly journals Surface antigens of melanocytes and melanomas. Markers of melanocyte differentiation and melanoma subsets.

1982 ◽  
Vol 156 (6) ◽  
pp. 1755-1766 ◽  
Author(s):  
A N Houghton ◽  
M Eisinger ◽  
A P Albino ◽  
J G Cairncross ◽  
L J Old
Keyword(s):  
Monoclonal Antibodies ◽  
Malignant Melanoma ◽  
Cell Surface ◽  
Surface Antigens ◽  
New Classification ◽  
Cell Surface Antigens ◽  
Normal Melanocyte ◽  
Early Markers ◽  
Adult Skin

The surface antigens of melanocytes from newborn and adult skin have been analyzed with monoclonal antibodies detecting cell surface antigens of malignant melanoma. Antigenic markers that distinguish early, intermediate, and mature stages in melanocyte differentiation have been defined. The characteristics of the normal melanocyte precursor have been inferred from the features of melanomas that express early markers of melanocyte differentiation. A rudimentary surface antigen map of cells undergoing melanocyte differentiation and a new classification of melanomas based on the expression of melanocyte differentiation antigens are proposed.

Methods of Simultaneous Visualization of Cytoplasmic Enzyme Reactivity and Cell Surface Antigens (by Cytochemistry Combined with Immunocytochemistry) in Individual Hematopoietic and Lymphoid Cells

1988 ◽  
Vol 3 (4) ◽  
pp. 221-232 ◽  
Author(s):  
A. Gloghini ◽  
M. Cozzi ◽  
S. Sulfaro ◽  
R. Volpe ◽  
A. Carbone
Keyword(s):  
Cell Surface ◽  
Cell Types ◽  
Lymphoid Cells ◽  
Reaction Products ◽  
Cell Surface Antigens ◽  
Enzyme Cytochemistry ◽  
Diagnosis And Classification ◽  
Different Cell Types ◽  
Simultaneous Visualization

Enzyme cytochemistry alone, and more recently, immunocytohistochemistry have been satisfactorily used by hematologists and hematopathologists for the study, diagnosis and classification of human hematological and lymphoproliferative disorders. To enhance the potential of these techniques, the possibility of combining immunocytohistochemical techniques with enzyme cytohistochemistry with simultaneous visualization of both reaction products has been examined by some investigators. This approach has been applied to normal, reactive and neoplastic material using mainly cell suspensions and frozen sections, with the aim of improving cell identification in specimens containing different cell types, of determining the cytochemical profiles of well-defined lymphocyte subpopulations and of establishing the cell surface phe-notypes of cells that are positive for certain enzymes. In this paper, published reports on this subject are reviewed and compared with the experience of our study group.

scholarly journals Repetitive ocular vestibular evoked myogenic potentials in myasthenia gravis

Neurology ◽  
2020 ◽  
Vol 94 (16) ◽  
pp. e1693-e1701 ◽  
Author(s):  
Robert H.P. de Meel ◽  
Kevin R. Keene ◽  
Magdalena A. Wirth ◽  
Konrad P. Weber ◽  
Umesh A. Badrising ◽  
...  
Keyword(s):  
Myasthenia Gravis ◽  
Neuromuscular Diseases ◽  
Added Value ◽  
Vestibular Evoked Myogenic Potentials ◽  
Congenital Myasthenic Syndrome ◽  
Healthy Controls ◽  
Class Iii ◽  
Repetitive Nerve Stimulation ◽  
Myasthenic Syndrome

ObjectiveTo validate the repetitive ocular vestibular evoked myogenic potentials (RoVEMP) test for diagnostic use in myasthenia gravis (MG) and to investigate its value in diagnostically challenging subgroups.MethodsThe RoVEMP test was performed in 92 patients with MG, 22 healthy controls, 33 patients with a neuromuscular disease other than MG (neuromuscular controls), 4 patients with Lambert-Eaton myasthenic syndrome, and 2 patients with congenital myasthenic syndrome.ResultsMean decrement was significantly higher in patients with MG (28.4% ± 32.2) than in healthy controls (3.2% ± 13.9; p < 0.001) or neuromuscular controls (3.8% ± 26.9; p < 0.001). With neuromuscular controls as reference, a cutoff of ≥14.3% resulted in a sensitivity of 67% and a specificity of 82%. The sensitivity of the RoVEMP test was 80% in ocular MG and 63% in generalized MG. The RoVEMP test was positive in 6 of 7 patients with seronegative MG (SNMG) with isolated ocular weakness. Of 10 patients with SNMG with negative repetitive nerve stimulation (RNS) results, 73% had an abnormal RoVEMP test. The magnitude of decrement was correlated with the time since the last intake of pyridostigmine (B = 5.40; p = 0.019).ConclusionsThe RoVEMP test is a new neurophysiologic test that, in contrast to RNS and single-fiber EMG, is able to measure neuromuscular transmission of extraocular muscles, which are the most affected muscles in MG. Especially in diagnostically challenging patients with negative antibody tests, negative RNS results, and isolated ocular muscle weakness, the RoVEMP test has a clear added value in supporting the diagnosis of MG.Classification of evidenceThis study provides Class III evidence that RoVEMP distinguishes MG from other neuromuscular diseases.

scholarly journals Elevated levels of miR-181c and miR-633 in the CSF of patients with MS

2019 ◽  
Vol 6 (6) ◽  
pp. e623
Author(s):  
Svenja Kramer ◽  
Arash Haghikia ◽  
Claudia Bang ◽  
Kristian Scherf ◽  
Angelika Pfanne ◽  
...  
Keyword(s):  
Case Control Study ◽  
Validation Cohort ◽  
Area Under The Curve ◽  
Diagnostic Value ◽  
Diagnostic Tools ◽  
Class Iii ◽  
Neurologic Diseases ◽  
Csf Levels ◽  
Control Study

ObjectiveTo validate a previously discovered microRNA (miRNA) panel in the CSF of patients with MS, we now tested the diagnostic value of CSF-derived candidate miRNAs in a case-control study in a larger MS cohort.MethodsThe levels of miR-181c, miR-633, and miR-922 were analyzed in the CSF of 218 patients with MS and 211 patients with other neurologic diseases (OND) by real-time quantitative reverse transcriptase PCR.ResultsCSF levels of both miR-181c (p < 0.001 and miR-633 p < 0.001) were higher in patients with MS patients compared with patients with OND. Both miR-181c (area under the curve [AUC] 0.75, 95% CI 0.70–0.80, p < 0.001) and miR-633 (AUC 0.75, 95% CI 0.68–0.83, p < 0.001) differentiated MS from OND. Combining both miRNAs yielded a sensitivity of 62% and specificity of 89% to differentiate MS from OND. miR-922 was not confirmed to be differentially expressed in this validation cohort.ConclusionsThe results of this so far largest study on CSF-based miRNAs confirm the diagnostic value of miR-181c and miR-633 for MS. The present study may help to extend the diagnostic tools for patients with suspected MS and may add further knowledge to the pathology of the disease.Classification of EvidenceThis study provides Class III evidence that CSF-derived miR-181c and miR-633 distinguish patients with MS from patients with OND.

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