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https://www.readbyqxmd.com/read/28106565/neuromyelitis-optica-in-a-patient-from-family-with-both-myotonic-dystrophy-type%C3%A2-1-and-2
#1
V Rakocevic-Stojanovic, S Peric, I Dujmovic, J Drulovic, J Pesovic, D Savic-Pavicevic
INTRODUCTION: The aim of this study was to present a family co-segregating myotonic dystrophy type 1 (DM1) and 2 (DM2), and one member affected with neuromyelitis optica (NMO). CASE REPORT: Index case underwent cataract surgery at age 39. Although she had no muscle symptoms, genetic testing revealed a DM2 mutation and a DM1 protomutation. The patient noticed difficulties in climbing stairs at age 47. Clinical examination showed mild muscle weakness, calf hypertrophy, mild myotonia and several multisystem signs...
January 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28092989/therapeutic-complement-inhibition-a-promising-approach-for-treatment-of-neuroimmunological-diseases
#2
Kjara S Pilch, Peter Spaeth, Yuki Nobuhiro, Benjamin R Wakerley
Autoimmunity is an important cause of disease both in the central and peripheral nervous systems. Aetiologies and clinical manifestations are complex and heterogeneous. Inappropriate control of complement activation at inappropriate sites has been recognized as a major determinant in several neurological conditions, including Guillain-Barré syndrome and neuromyelitis optica. In each case pathogenesis is thought to be associated with generation of autoantibodies which upon binding guide activation of the complement system to self-tissue...
January 17, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28071581/role-of-aqp4-antibody-serostatus-and-its-prediction-of-visual-outcome-in-neuromyelitis-optica-a-systematic-review-and-meta-analysis
#3
Nan Lin, Qing Liu, Xiaoyu Wang, Jianmei Ma, Yuyuan Li
: Backgroud: Neuromyelitis optica (NMO) is an autoimmune inflammatory disorder, which is characterized by severe attacks of optic neuritis and myelitis. Antibodies (Ab) to aquaporin-4 (AQP4) (or NMO-IgG) as a serological biomarker of NMO have been widespread used. Nevertheless, some NMO patients remain seronegative for AQP4-Ab and/or have no detected optic nerve involvement. In addition, no consensus exists on the association between AQP4-Ab serostatus and visual outcome in NMO. To drive a more precise estimate of this postulated relationship, a meta-analysis was performed based on existing relevant studies...
January 10, 2017: Protein and Peptide Letters
https://www.readbyqxmd.com/read/28060988/-neuromyelitis-optica-presenting-concomitantly-with-systemic-lupus-erythematosus-report-of-one-case
#4
Felipe Suárez H, Daniela Urrutia E, Felipe Canales P, Camila Gutiérrez O
Neuromyelitis optica (NMO) is a severe demyelinating disease of the central nervous system, which preferentially attacks the optic nerve and spinal cord. It is associated with antibodies against aquaporin 4. Morbidity and mortality are higher than in multiple sclerosis and its treatment focuses on immunosuppressive drugs. Immunomodulators are contraindicated. We report a previously healthy 35-year-old man, presenting with NMO concomitantly with systemic lupus erythematosus. His evolution was torpid with three outbreaks in the 10 months after the diagnosis, requiring a first-line therapy with methylprednisolone and cyclophosphamide and then a second-line therapy with rituximab...
September 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28058717/deletional-tolerance-prevents-aqp4-directed-autoimmunity-in-mice
#5
Anna-Lena Vogel, Benjamin Knier, Katja Lammens, Sudhakar Reddy Kalluri, Tanja Kuhlmann, Jeffrey L Bennett, Thomas Korn
Neuromyelitis optica (NMO) is an autoimmune disorder of the central nervous system (CNS) mediated by antibodies to water channel protein AQP4 expressed in astrocytes. The contribution of AQP4-specific T cells to the class switch recombination of pathogenic AQP4-specific antibodies and to the inflammation of the blood-brain-barrier is incompletely understood, as immunogenic naturally processed T-cell epitopes of AQP4 are unknown. By immunizing Aqp4(-/-) mice with full length murine AQP4 protein followed by recall with overlapping peptides, we here identify AQP4(201-220) as the major immunogenic IA(b) -restricted epitope of AQP4...
January 5, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28057643/retinal-segmented-layers-with-strong-aquaporin-4-expression-suffered-more-injuries-in-neuromyelitis-optica-spectrum-disorders-compared-with-optic-neuritis-with-aquaporin-4-antibody-seronegativity-detected-by-optical-coherence-tomography
#6
Chun Xia Peng, Hong Yang Li, Wei Wang, Jun Qing Wang, Lei Wang, Quan Gang Xu, Shan Shan Cao, Huan Fen Zhou, Shuo Zhao, Shi Hui Wei
PURPOSE: To evaluate retinal segmented layer alterations in optic neuritis (ON) in an AQP4-Ab seropositive (AQP4-Ab+/ON) cohort and in neuromyelitis optica (NMO) with ON eyes (NMO-ON) compared with an AQP4-Ab seronegative ON (AQP4-Ab-/ON) cohort using optical coherence tomography (OCT). METHODS: We recruited 109 patients with ON (161 eyes) and 47 healthy controls. All patients with ON were subdivided into three subcohorts: 37 patients (54 eyes) with AQP4-Ab+/ON, 45 patients (65 eyes) with AQP4-Ab-/ON and 27 patients (42 eyes) with NMO-ON...
January 5, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28056870/anti-n-methyl-d-aspartate-receptor-nmdar-antibody-encephalitis-presents-in-atypical-types-and-coexists-with-neuromyelitis-optica-spectrum-disorder-or-neurosyphilis
#7
Kaiyu Qin, Wenqing Wu, Yuming Huang, Dongmei Xu, Lei Zhang, Bowen Zheng, Meijuan Jiang, Cheng Kou, Junhua Gao, Wurong Li, Jinglin Zhang, Sumei Wang, Yanfei Luan, Chaoling Yan, Dan Xu, Xinmei Zheng
BACKGROUND: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a clinically heterogeneous disorder characterized by epileptic seizures, psychosis, dyskinesia, consciousness impairments, and autonomic instability. Symptoms are always various. Sometimes it presents in milder or incomplete forms. We report 4 cases of anti-NMDAR encephalitis with incomplete forms, 3 cases of which were accompanied by neuromyelitis optica spectrum disorder or neurosyphilis respectively. CASE PRESENTATION: A 33-year-old man presented with dysarthria, movement disorder and occasional seizures...
January 5, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28054001/aquaporin-4-antibody-titration-in-nmo-patients-treated-with-rituximab-a-retrospective-study
#8
Paola Valentino, Fabiana Marnetto, Letizia Granieri, Marco Capobianco, Antonio Bertolotto
OBJECTIVE: We undertook an observational retrospective study to investigate the usefulness of aquaporin-4 (AQP4) antibodies (Ab) titration in the management of patients with neuromyelitis optica (NMO) treated with rituximab (RTX) by studying (1) the correlation between AQP4-Ab titer and disease activity, (2) the influence of RTX on antibody levels, and (3) the association between AQP4-Ab levels and responsiveness to RTX. METHODS: A cell-based assay was used for AQP4-Ab titration in 322 serum samples from 7 patients with NMO treated with RTX (median follow-up 65 months), according to a treatment-to-target approach...
March 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28027883/role-of-the-h-bond-between-l53-and-t56-for-aquaporin-4-epitope-in-neuromyelitis-optica
#9
Francesco Pisani, Laura Simone, Concetta Domenica Gargano, Manuela De Bellis, Antonio Cibelli, Maria Grazia Mola, Giacomo Catacchio, Antonio Frigeri, Maria Svelto, Grazia Paola Nicchia
Aquaporin-4 (AQP4) is the CNS water channel organized into well-ordered protein aggregates called Orthogonal Arrays of Particles (OAPs). Neuromyelitis Optica (NMO) is an autoimmune disease caused by anti-OAP autoantibodies (AQP4-IgG). Molecular Dynamics (MD) simulations have identified an H-bond between L53 and T56 as the key for AQP4 epitope and therefore of potential interest for drug design in NMO field. In the present study, we have experimentally tested this MD-prediction using the classic mutagenesis approach...
December 24, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28018944/finding-nmo
#10
EDITORIAL
Richard Daneman
No abstract text is available yet for this article.
January 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28018943/effects-of-neuromyelitis-optica-igg-at-the-blood-brain-barrier-in-vitro
#11
Yukio Takeshita, Birgit Obermeier, Anne C Cotleur, Simona F Spampinato, Fumitaka Shimizu, Erin Yamamoto, Yasuteru Sano, Thomas J Kryzer, Vanda A Lennon, Takashi Kanda, Richard M Ransohoff
OBJECTIVE: To address the hypothesis that physiologic interactions between astrocytes and endothelial cells (EC) at the blood-brain barrier (BBB) are afflicted by pathogenic inflammatory signaling when astrocytes are exposed to aquaporin-4 (AQP4) antibodies present in the immunoglobulin G (IgG) fraction of serum from patients with neuromyelitis optica (NMO), referred to as NMO-IgG. METHODS: We established static and flow-based in vitro BBB models incorporating co-cultures of conditionally immortalized human brain microvascular endothelial cells and human astrocyte cell lines with or without AQP4 expression...
January 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28017256/treatment-of-neuromyelitis-optica-and-neuromyelitis-optica-spectrum-disorders-with-rituximab-using-a-maintenance-treatment-regimen-and-close-cd19-b-cell-monitoring-a-six-year-follow-up
#12
M E Evangelopoulos, E Andreadou, G Koutsis, V Koutoulidis, M Anagnostouli, P Katsika, D S Evangelopoulos, I Evdokimidis, C Kilidireas
Neuromyelitis optinca (NMO) represents a serious demyelinating disease of the central nervous system selectively attacking the spinal cord and optic nerve. Early differential diagnosis from multiple sclerosis is of vital importance, as NMO mandates immunosuppressive and not immunomodulatory treatment. Rituximab has been recently introduced as a treatment option for NMO. However, optimal surrogate measures and treatment intervals are still unclear. Five patients (females, mean age 54±10.21years) with NMO and NMO spectrum disorders (NMOSD) were evaluated with respect to disability and relapse rate...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28017209/high-dose-methotrexate-with-leucovorin-rescue-for-monumentally-severe-cns-inflammatory-syndromes
#13
Shin C Beh, Eric Kildebeck, Ram Narayan, Allen Desena, Doug Schell, Elizabeth S Rowe, Vernon Rowe, Dennis Burns, Louis Whitworth, Teresa C Frohman, Benjamin Greenberg, Elliot M Frohman
BACKGROUND: At sufficiently high doses, methotrexate (HDMTX) achieves substantial CNS penetration, whereas other tissues can be rescued from the effects of HDMTX by leucovorin rescue (LR), which does not penetrate the blood-brain barrier. OBJECTIVES: To report on the efficacy and safety of HDMTX with LR (HDMTX-LR), in the treatment of acute demyelinating inflammatory CNS syndromes refractory to conventional immunotherapy. METHODS: We performed a retrospective chart review of 12 patients treated (6 multiple sclerosis [MS], 4 neuromyelitis optica [NMO], and 2 Sjogren's syndrome myelopathy [SSM]) with HDMTX-LR after failing to improve, or exhibiting worsening following conventional immunotherapy...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27990369/macular-changes-of-neuromyelitis-optica-through-spectral-domain-optical-coherence-tomography
#14
Lu Cheng, Jing Wang, Xu He, Xun Xu, Zhen-Fen Ling
AIM: To evaluate the thickness of the retinal layers in the macula using spectral-domain optical coherence tomography (SD-OCT) in patients with neuromyelitis optica (NMO). METHODS: Spectralis SD-OCT, utilizing automated macular layer segmentation, was performed in 26 NMO patients and 26 healthy controls. Visual function including visual field tests and pattern visual evoked potential were recorded in study subjects. RESULTS: Forty-one eyes from 26 NMO patients and 52 eyes from 26 age- and sex-matched healthy controls were included...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27988051/the-clinical-characteristics-of-aqp4-antibody-positive-nmo-sd-in-a-large-cohort-of-chinese-han-patients
#15
Jingzi ZhangBao, Lei Zhou, Xiaoyang Li, Tongjia Cai, Jiahong Lu, Chuanzhen Lu, Chongbo Zhao, Chao Quan
We aim to summarize the clinical features of AQP4-ab-positive NMO/SD in a large Chinese Han cohort. The clinical data of 145 AQP4-ab-seropositive patients was retrospectively reviewed. 55.9% (81/145) of the patients were defined as NMO while 39.3% (57/145) were defined as NMOSD according to the criteria established in 2006 and 2007. The mean onset age was 34.4years and the female to male ratio was 8.7:1. The median disease duration was 57months. The median of "time to second attack" and "time to develop NMO" was 7 and 13months respectively...
January 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/27942009/hydroxycholesterol-levels-in-the-serum-and-cerebrospinal-fluid-of-patients-with-neuromyelitis-optica-revealed-by-lc-ag-cis-ms-ms-and-lc-esi-ms-ms-with-picolinic-derivatization-increased-levels-and-association-with-disability-during-acute-attack
#16
Eunju Cha, Kang Mi Lee, Ki Duk Park, Kyung Seok Park, Kwang-Woo Lee, Sung-Min Kim, Jaeick Lee
Neuromyelitis optica (NMO) is an inflammatory demyelinating disease of the central nervous system (CNS). Hydroxycholesterols (OHCs), metabolites of CNS cholesterol, are involved in diverse cellular responses to inflammation and demyelination, and may also be involved in the pathogenesis of NMO. We aimed to develop a sensitive and reliable method for the quantitative analysis of three major OHCs (24S-, 25-, and 27-OHCs), and to evaluate their concentration in the cerebrospinal fluid (CSF) and serum of patients with NMO...
2016: PloS One
https://www.readbyqxmd.com/read/27940915/tolerance-checkpoint-bypass-permits-emergence-of-pathogenic-t-cells-to-neuromyelitis-optica-autoantigen-aquaporin-4
#17
Sharon A Sagan, Ryan C Winger, Andrés Cruz-Herranz, Patricia A Nelson, Sarah Hagberg, Corey N Miller, Collin M Spencer, Peggy P Ho, Jeffrey L Bennett, Michael Levy, Marc H Levin, Alan S Verkman, Lawrence Steinman, Ari J Green, Mark S Anderson, Raymond A Sobel, Scott S Zamvil
Aquaporin-4 (AQP4)-specific T cells are expanded in neuromyelitis optica (NMO) patients and exhibit Th17 polarization. However, their pathogenic role in CNS autoimmune inflammatory disease is unclear. Although multiple AQP4 T-cell epitopes have been identified in WT C57BL/6 mice, we observed that neither immunization with those determinants nor transfer of donor T cells targeting them caused CNS autoimmune disease in recipient mice. In contrast, robust proliferation was observed following immunization of AQP4-deficient (AQP4(-/-)) mice with AQP4 peptide (p) 135-153 or p201-220, peptides predicted to contain I-A(b)-restricted T-cell epitopes but not identified in WT mice...
December 20, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27919188/clinical-analysis-of-neuromyelitis-optica-presenting-as-intractable-nausea-vomiting-and-hiccups
#18
Xuehong Jin, Shaofang Pei, Yi Liu, Xia Li
Vomiting and hiccups can be the manifestations of numerous systemic and neurological illnesses. Intractable nausea, vomiting and hiccups (INH) are reported as possible initial manifestations of neuromyelitis optica (NMO), but not correctly identified. Awareness of these atypical presentations is conducive to NMO early diagnosis and proper treatment to prevent further disability. In this paper, 12 NMO were reported, whose intractable vomiting and hiccups were the sole manifestations of the first attack and other attacks involving spinal cord and optic nerves developed later...
December 16, 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27909800/cognitive-dysfunction-in-adult-patients-with-neuromyelitis-optica-a-systematic-review-and-meta-analysis
#19
REVIEW
Hao Meng, Jun Xu, Chenling Pan, Jiaxing Cheng, Yue Hu, Yin Hong, Yuehai Shen, Hua Dai
The objective of this study was to investigate cognitive dysfunction in 24-60-year-old neuromyelitis optica (NMO) patients, demographically matched healthy subjects, and MS patients. We conducted a comprehensive literature review of the PubMed, Medline, EMBASE, CNKI, Wan Fang Date, Web of Science, and Cochrane Library databases from inception to May 2016 for case-control studies that reported cognitive test scores in NMO patients, healthy subjects, and MS patients. Outcome measures were cognitive function evaluations, including performance on attention, language, memory, information processing speed, and executive function tests...
December 1, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27905992/variable-sensitivity-to-complement-dependent-cytotoxicity-in-murine-models-of-neuromyelitis-optica
#20
Yiting Liu, Danielle E Harlow, Katherine S Given, Gregory P Owens, Wendy B Macklin, Jeffrey L Bennett
BACKGROUND: Studies of neuromyelitis optica (NMO), an autoimmune disease of the central nervous system (CNS), have demonstrated that autoantibodies against the water channel aquaporin-4 (AQP4) induce astrocyte damage through complement-dependent cytotoxicity (CDC). In developing experimental models of NMO using cells, tissues or animals from mice, co-administration of AQP4-IgG and normal human serum, which serves as the source of human complement (HC), is required. The sensitivity of mouse CNS cells to HC and CDC in these models is not known...
December 1, 2016: Journal of Neuroinflammation
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