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Neuroimmunology

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87 papers 0 to 25 followers
https://www.readbyqxmd.com/read/27262149/stiff-person-syndrome-and-other-immune-mediated-movement-disorders-new-insights
#1
REVIEW
Bettina Balint, Kailash P Bhatia
PURPOSE OF REVIEW: This review highlights the recent developments in immune-mediated movement disorders and how they reflect on clinical practice and our understanding of the underlying pathophysiological mechanisms. RECENT FINDINGS: The antibody spectrum associated with stiff person syndrome and related disorders (SPSD) has broadened and, apart from the classic glutamic acid decarboxylase (GAD)- and amphiphysin-antibodies, includes now also antibodies against dipeptidyl-peptidase-like protein-6 (DPPX), gamma-aminobutyric acid type A receptor (GABAAR), glycine receptor (GlyR) and glycine transporter 2 (GlyT2)...
August 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/24951641/glycine-receptor-antibodies-in-perm-and-related-syndromes-characteristics-clinical-features-and-outcomes
#2
Alexander Carvajal-González, M Isabel Leite, Patrick Waters, Mark Woodhall, Ester Coutinho, Bettina Balint, Bethan Lang, Philippa Pettingill, Aisling Carr, Una-Marie Sheerin, Rayomand Press, Raomand Press, Michael P Lunn, Ming Lim, Paul Maddison, H-M Meinck, Wim Vandenberghe, Angela Vincent
The clinical associations of glycine receptor antibodies have not yet been described fully. We identified prospectively 52 antibody-positive patients and collated their clinical features, investigations and immunotherapy responses. Serum glycine receptor antibody endpoint titres ranged from 1:20 to 1:60 000. In 11 paired samples, serum levels were higher than (n = 10) or equal to (n = 1) cerebrospinal fluid levels; there was intrathecal synthesis of glycine receptor antibodies in each of the six pairs available for detailed study...
August 2014: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29061244/neuromyelitis-optica
#3
REVIEW
Sarah L Patterson, Sarah E Goglin
Neuromyelitis optica (NMO), formerly known as Devic disease, is an autoimmune astrocytopathic disease characterized by transverse myelitis and optic neuritis. Most patients demonstrate a relapsing course with incomplete recovery between attacks, resulting in progressive disability. The pathogenesis involves production of aquaporin-4 antibodies (AQP4-IgG) by plasmablasts in peripheral circulation, disruption of the blood-brain barrier, complement-mediated astrocyte injury, and secondary demyelination. The diagnosis relies on characteristic clinical manifestations in the presence of serum AQP4-IgG positivity or specific neuroimaging findings, and exclusion of alternative etiologies...
November 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/23423537/agrypnia-excitata
#4
REVIEW
Federica Provini
Agrypnia (from the Greek: to chase sleep) excitata (AE) is a syndrome characterized by loss of sleep and permanent motor and autonomic hyperactivation (excitata). Disruption of the sleep-wake rhythm consists in the disappearance of spindle-delta activities, and the persistence of stage 1 non-rapid eye movement (NREM) sleep. Rapid eye movement (REM) sleep persists but fails to stabilize, appearing in short recurrent episodes, isolated, or mixed with stage 1 NREM sleep. Diurnal and nocturnal motor, autonomic and hormonal overactivity is the second hallmark of AE...
April 2013: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28522451/ada2-deficiency-dada2-as-an-unrecognised-cause-of-early-onset-polyarteritis-nodosa-and-stroke-a-multicentre-national-study
#5
MULTICENTER STUDY
Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Alessia Omenetti, Maria Alessio, Giovanni Conti, Federico Marchetti, Paolo Picco, Alberto Tommasini, Silvana Martino, Clara Malattia, Romina Gallizi, Rosa Anna Podda, Annalisa Salis, Fernanda Falcini, Francesca Schena, Francesca Garbarino, Alessia Morreale, Manuela Pardeo, Claudia Ventrici, Chiara Passarelli, Qing Zhou, Mariasavina Severino, Carlo Gandolfo, Gianluca Damonte, Alberto Martini, Angelo Ravelli, Ivona Aksentijevich, Isabella Ceccherini, Marco Gattorno
OBJECTIVES: To analyse the prevalence of CECR1 mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study. METHODS: Direct sequencing of CECR1 was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity was analysed in monocyte isolated from patients and healthy controls incubated with adenosine and with or without an ADA1 inhibitor...
October 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29059494/molecular-based-diagnosis-of-multiple-sclerosis-and-its-progressive-stage
#6
Christopher Barbour, Peter Kosa, Mika Komori, Makoto Tanigawa, Ruturaj Masvekar, Tianxia Wu, Kory Johnson, Panagiotis Douvaras, Valentina Fossati, Ronald Herbst, Yue Wang, Keith Tan, Mark Greenwood, Bibiana Bielekova
OBJECTIVE: Biomarkers aid diagnosis, allow inexpensive screening of therapies and guide selection of patient-specific therapeutic regimens in most internal medicine disciplines. In contrast, neurology lacks validated measurements of the physiological status, or dysfunction(s) of cells of the central nervous system (CNS). Accordingly, patients with chronic neurological diseases are often treated with a single disease-modifying therapy without understanding patient-specific drivers of disability...
October 23, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28969984/risk-of-natalizumab-associated-progressive-multifocal-leukoencephalopathy-in-patients-with-multiple-sclerosis-a-retrospective-analysis-of-data-from-four-clinical-studies
#7
Pei-Ran Ho, Harold Koendgen, Nolan Campbell, Bill Haddock, Sandra Richman, Ih Chang
BACKGROUND: Previous estimates of risk of progressive multifocal leukoencephalopathy (PML) in patients with multiple sclerosis receiving natalizumab were stratified by three risk factors: anti-John Cunningham virus (JCV) antibodies in serum, previous immunosuppressant use, and treatment duration, which were estimated using population-based assumptions. We aimed to calculate PML risk estimates from patient-level risk-factor data and to stratify risk by concentrations of anti-JCV antibody in serum (anti-JCV antibody index)...
November 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28987176/immune-mediated-disorders
#8
Romana Höftberger, Hans Lassmann
Paraneoplastic and autoimmune encephalitis comprise a group of immune-mediated disorders that are associated with different immune effector mechanisms. Classic paraneoplastic neurologic syndromes are triggered by an antitumor immune response. The disease is considered to result from a T-cell response; in addition, patients harbour high titers of autoantibodies against intracellular antigens that are considered as epiphenomenon but are useful diagnostic markers. Neuropathology consists of T-cell-dominated inflammation, marked neuronal loss, and microglial activation with upregulation of HLA-DR...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28844068/dimethyl-fumarate-a-possible-exit-strategy-from-natalizumab-treatment-in-patients-with-multiple-sclerosis-at-risk-for-severe-adverse-events
#9
Massimiliano Calabrese, Marco Pitteri, Gabriele Farina, Albulena Bajrami, Marco Castellaro, Roberta Magliozzi, Salvatore Monaco
INTRODUCTION: Among disease-modifying treatments for multiple sclerosis, natalizumab (NTZ) is highly effective, well tolerated and generally safe. Major concerns regard the risk of developing progressive multifocal leukoencephalopathy (PML), and the occurrence of rebounds or disease activity after its discontinuation. The aim of this study was to explore the efficacy of dimethyl fumarate (DMF) in preventing disease reactivation after NTZ discontinuation. METHODS: Thirty-nine patients with relapsing remitting multiple sclerosis, at high risk of PML, were switched from NTZ to DMF and underwent neurological and 3T MRI monitoring for 2 years...
August 26, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28670343/differential-diagnosis-of-neuromyelitis-optica-spectrum-disorders
#10
REVIEW
Sung-Min Kim, Seong-Joon Kim, Haeng Jin Lee, Hiroshi Kuroda, Jacqueline Palace, Kazuo Fujihara
Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disorder of the central nervous system (CNS) mostly manifesting as optic neuritis and/or myelitis, which are frequently recurrent/bilateral or longitudinally extensive, respectively. As the autoantibody to aquaporin-4 (AQP4-Ab) can mediate the pathogenesis of NMOSD, testing for the AQP4-Ab in serum of patients can play a crucial role in diagnosing NMOSD. Nevertheless, the differential diagnosis of NMOSD in clinical practice is often challenging despite the phenotypical and serological characteristics of the disease because: (1) diverse diseases with autoimmune, vascular, infectious, or neoplastic etiologies can mimic these phenotypes of NMOSD; (2) patients with NMOSD may only have limited clinical manifestations, especially in their early disease stages; (3) test results for AQP4-Ab can be affected by several factors such as assay methods, serologic status, disease stages, or types of treatment; (4) some patients with NMOSD do not have AQP4-Ab; and (5) test results for the AQP4-Ab may not be readily available for the acute management of patients...
July 2017: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/27299786/-clinical-phenomenology-of-autoimmune-encephalitis
#11
REVIEW
J F Holle, F Jessen, J Kuhn
Antibody-associated disorders of the central nervous system constitute a heterogeneous group of disorders that can be roughly divided into two categories: Classic paraneoplastic syndromes associated with so-called well-characterized antibodies (paraneoplastic neurological disorders, PND) and autoimmune disorders with antibodies to membrane-bound or synaptic antigens (autoimmune encephalitis, AE). The discovery of autoimmune encephalitis has led to a paradigm shift in diagnosis and therapy as well as a reclassification of some neuropsychiatric syndromes that were previously classified as idiopathic or simply covered with descriptive terms...
May 2016: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/27806876/chorea-and-parkinsonism-associated-with-autoantibodies-to-iglon5-and-responsive-to-immunotherapy
#12
Ren Haitao, Yang Yingmai, Huang Yan, Han Fei, Lv Xia, Hao Honglin, Liu Chaiyan, Winfried Stöcker, Cui Liying, Guan Hongzhi
Encephalopathy associated with autoantibodies to IgLON5 is a novel syndrome characterized by a distinct sleep disorder and brain-stem involvement. Since the initial description of this encephalopathy in 2014, only a few additional patients have been reported (Simabukuro et al., 2015). In this paper, we report a new case of anti-IgLON5 antibodies with major symptoms of chorea and parkinsonism, and responsive to immunotherapy.
November 15, 2016: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28796432/7t-mri-visualization-of-cortical-lesions-in-adolescents-and-young-adults-with-pediatric-onset-multiple-sclerosis
#13
Ritobrato Datta, Varun Sethi, Sophia Ly, Amy T Waldman, Sona Narula, Blake E Dewey, Pascal Sati, Daniel Reich, Brenda Banwell
BACKGROUND: Cortical pathology in multiple sclerosis (MS) has been associated with prolonged and progressive disease. 7T magnetic resonance imaging (MRI) provides enhanced visualization of cortical lesions (CLs). Hence, we conducted a pilot study to explore whether CLs occur early in MS, as evidenced by pediatric-onset patients. METHODS: A total of 8 pediatric-onset MS patients were imaged using 7T MRI. CLs were annotated on T1-weighted magnetization-prepared rapid acquisition of gradient echoes images as leukocortical (LC), intracortical, or subpial...
September 2017: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/28904568/pediatric-autoimmune-encephalitis
#14
REVIEW
Massimo Barbagallo, Giovanna Vitaliti, Piero Pavone, Catia Romano, Riccardo Lubrano, Raffaele Falsaperla
Autoimmune (antibody mediated) encephalitis (AE) is emerging as a more common cause of pediatric encephalopathy than previously thought. The autoimmune process may be triggered by an infection, vaccine, or occult neoplasm. In the latter case, onconeural autoantibodies are directed against intracellular neuronal antigens, but a recent heterogeneous group of encephalitic syndromes has been found not to have underlying tumor but is associated with autoantibodies to the neuronal surface or synaptic antigens. Neuropsychiatric symptoms are very common in autoimmune encephalopathy; as a result, affected children may be initially present to psychiatrists...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28870420/value-of-protein-concentration-in-cerebrospinal-fluid-in-paediatric-patients-with-guillain-barre-syndrome
#15
Martha Esther Vidrio-Becerra, Jaime Valle-Leal, María Enriqueta Loaiza-Sarabia, Lucia Alvarez-Bastidas, Jesus Ignacio Lachica-Valle, Cruz Mónica López-Morales
INTRODUCTION AND OBJECTIVE: The albumin-cytologic dissociation in cerebrospinal fluid (CSF) supports the diagnosis of Guillain-Barre syndrome (GBS) but does not support the prognosis, so the aim of this study is to determine the usefulness of protein numbers in the CSF to predict progression in paediatric patients. PATIENTS AND METHODS: A diagnostic test was performed in paediatric patients with GBS, analysing sociodemographic, clinical and protein variables in CSF as well as electromyography...
September 1, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/27358064/neuropathological-criteria-of-anti-iglon5-related-tauopathy
#16
Ellen Gelpi, Romana Höftberger, Francesc Graus, Helen Ling, Janice L Holton, Timothy Dawson, Mara Popovic, Janja Pretnar-Oblak, Birgit Högl, Erich Schmutzhard, Werner Poewe, Gerda Ricken, Joan Santamaria, Josep Dalmau, Herbert Budka, Tamas Revesz, Gabor G Kovacs
We recently reported a novel neurological syndrome characterized by a unique NREM and REM parasomnia with sleep apnea and stridor, accompanied by bulbar dysfunction and specific association with antibodies against the neuronal cell-adhesion protein IgLON5. All patients had the HLA-DRB1*1001 and HLA-DQB1*0501 alleles. Neuropathological findings in two patients revealed a novel tauopathy restricted to neurons and predominantly involving the hypothalamus and tegmentum of the brainstem. The aim of the current study is to describe the neuropathological features of the anti-IgLON5 syndrome and to provide diagnostic levels of certainty based on the presence of associated clinical and immunological data...
October 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/28852690/understanding-anti-iglon5-disease
#17
EDITORIAL
Francesc Graus, Joan Santamaría
No abstract text is available yet for this article.
September 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28861121/tacrolimus-in-the-treatment-of-myasthenia-gravis-in-patients-with-an-inadequate-response-to-glucocorticoid-therapy-randomized-double-blind-placebo-controlled-study-conducted-in-china
#18
Lei Zhou, Weibin Liu, Wei Li, Haifeng Li, Xu Zhang, Huifang Shang, Xu Zhang, Bitao Bu, Hui Deng, Qi Fang, Jimei Li, Hua Zhang, Zhi Song, Changyi Ou, Chuanzhu Yan, Tao Liu, Hongyu Zhou, Jianhong Bao, Jiahong Lu, Huawei Shi, Chongbo Zhao
BACKGROUND: To determine the efficacy of low-dose, immediate-release tacrolimus in patients with myasthenia gravis (MG) with inadequate response to glucocorticoid therapy in a randomized, double-blind, placebo-controlled study. METHODS: Eligible patients had inadequate response to glucocorticoids (GCs) after ⩾6 weeks of treatment with prednisone ⩾0.75 mg/kg/day or 60-100 mg/day. Patients were randomized to receive 3 mg tacrolimus or placebo daily (orally) for 24 weeks...
September 2017: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/28861122/the-role-of-natalizumab-in-the-treatment-of-multiple-sclerosis-benefits-and-risks
#19
REVIEW
Barry A Singer
Natalizumab, a monoclonal antibody that blocks lymphocyte infiltration in the central nervous system, is a valuable tool in the treatment of relapsing forms of multiple sclerosis (MS). In a phase III clinical trial comparing natalizumab with placebo over 2 years, natalizumab reduced annualized relapse rate by 68%, 12-week confirmed disability progression by 42%, and reduced contrast-enhancing lesions by 92%. In post hoc analyses, natalizumab treatment was associated with 37% of patients achieving no evidence of disease activity (versus 7% on placebo) and 30% achieving sustained disability improvement (versus 19% on placebo)...
September 2017: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/28843454/pediatric-multiple-sclerosis-genes-environment-and-a-comprehensive-therapeutic-approach
#20
REVIEW
Ryan Cappa, Liana Theroux, J Nicholas Brenton
BACKGROUND: Pediatric multiple sclerosis is an increasingly recognized and studied disorder that accounts for 3% to 10% of all patients with multiple sclerosis. The risk for pediatric multiple sclerosis is thought to reflect a complex interplay between environmental and genetic risk factors. MAIN FINDINGS: Environmental exposures, including sunlight (ultraviolet radiation, vitamin D levels), infections (Epstein-Barr virus), passive smoking, and obesity, have been identified as potential risk factors in youth...
October 2017: Pediatric Neurology
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