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Chen Cheng, Ying Jiang, Xiaodong Lu, Fu Gu, Zhuang Kang, Yongqiang Dai, Zhengqi Lu, Xueqiang Hu
BACKGROUND: Acute brainstem syndrome (ABS) may herald multiple sclerosis (MS), neuromyelitis optica (NMO), or occur as an isolated syndrome. The aquaporin 4 (AQP4)-specific serum autoantibody, NMO-IgG, is a biomarker for NMO. However, the role of anti-AQP4 antibody in the conversion of ABS to NMO is unclear. METHODS: Thirty-one patients with first-event ABS were divided into two groups according to the presence of anti-AQP4 antibodies, their clinical features and outcomes were retrospectively analyzed...
October 21, 2016: BMC Neurology
Christian M Felix, Marc H Levin, Alan S Verkman
BACKGROUND: Neuromyelitis optica (NMO), an autoimmune inflammatory disease of the central nervous system, is often associated with retinal abnormalities including thinning of the retinal nerve fiber layer and microcystic changes. Here, we demonstrate that passive transfer of an anti-aquaporin-4 autoantibody (AQP4-IgG) produces primary retinal pathology. METHODS: AQP4-IgG was delivered to adult rat retinas by intravitreal injection. Rat retinas and retinal explant cultures were assessed by immunofluorescence...
October 20, 2016: Journal of Neuroinflammation
Vahid Davoudi, Kiandokht Keyhanian, Riley M Bove, Tanuja Chitnis
Anti-aquaporin-4 (AQP4) autoantibody plays a key role in the pathogenesis of neuromyelitis optica (NMO). Studies have shown increased relapse rates in patients with NMO during pregnancy and postpartum. High estrogen levels during pregnancy can increase activation-induced cytidine deaminase expression, which is responsible for immunoglobulin production. Additionally, sex hormones may influence antibody glycosylation, with effects on antibody function. Estrogen decreases apoptosis of self-reactive B cells, through upregulation of antiapoptotic molecules...
December 2016: Neurology® Neuroimmunology & Neuroinflammation
Sung-Min Kim, Patrick Waters, Mark Woodhall, Yoo-Jin Kim, Jin-Ah Kim, So Young Cheon, Sehoon Lee, Seong Rae Jo, Dong Gun Kim, Kyeong Cheon Jung, Kwang-Woo Lee, Jung-Joon Sung, Kyung Seok Park
BACKGROUND: Neuromyelitis optica spectrum disorder with aquaporin4-immunoglobulin G (NMOSD-AQP4) is an inflammatory disease characterised by a high female predominance. However, the effect of gender in patients with NMOSD-AQP4 has not been fully evaluated. OBJECTIVE: The aim of this study was to determine the effect of gender in clinical manifestations and prognosis of patients with NMOSD-AQP4. METHODS: The demographics, clinical and radiological characteristics, pattern reversal visual evoked potential (VEP) test results, and prognosis of 102 patients (18 males) with NMOSD-AQP4 were assessed...
October 19, 2016: Multiple Sclerosis: Clinical and Laboratory Research
W Oliver Tobin, Chiara Costanzi, Yong Guo, Joseph E Parisi, Stephen D Weigand, Claudia F Lucchinetti
BACKGROUND: The spectrum of central nervous system-idiopathic inflammatory demyelinating disease (CNS-IIDD) in the elderly is uncertain. OBJECTIVE: To describe the clinical, radiological, and pathological features of a cohort of 30 pathologically proven CNS-IIDD patients ⩾65 years. METHODS: Elderly multiple sclerosis (MS)/clinically isolated syndrome (CIS) patients were compared to a cohort of 125 patients with pathologically proven MS/CIS and symptom onset <65 years...
October 19, 2016: Multiple Sclerosis: Clinical and Laboratory Research
Nadja Borisow, Ingo Kleiter, Anna Gahlen, Katrin Fischer, Klaus-Dieter Wernecke, Florence Pache, Klemens Ruprecht, Joachim Havla, Markus Krumbholz, Tania Kümpfel, Orhan Aktas, Marius Ringelstein, Christian Geis, Christoph Kleinschnitz, Achim Berthele, Bernhard Hemmer, Klemens Angstwurm, Robert Weissert, Jan-Patrick Stellmann, Simon Schuster, Martin Stangel, Florian Lauda, Hayrettin Tumani, Christoph Mayer, Lena Zeltner, Ulf Ziemann, Ralf A Linker, Matthias Schwab, Martin Marziniak, Florian Then Bergh, Ulrich Hofstadt-van Oy, Oliver Neuhaus, Alexander Winkelmann, Wael Marouf, Lioba Rückriem, Jürgen Faiss, Brigitte Wildemann, Friedemann Paul, Sven Jarius, Corinna Trebst, Kerstin Hellwig
BACKGROUND: Gender and age at onset are important epidemiological factors influencing prevalence, clinical presentation, and treatment response in autoimmune diseases. OBJECTIVE: To evaluate the impact of female sex and fertile age on aquaporin-4-antibody (AQP4-ab) status, attack localization, and response to attack treatment in patients with neuromyelitis optica (NMO) and its spectrum disorders (neuromyelitis optica spectrum disorder (NMOSD)). METHODS: Female-to-male ratios, diagnosis at last visit (NMO vs NMOSD), attack localization, attack treatment, and outcome were compared according to sex and age at disease or attack onset...
October 6, 2016: Multiple Sclerosis: Clinical and Laboratory Research
Ana Luiza M Amorim, Nadia C Cabral, Fabiane M Osaku, Claudio A Len, Enedina M L Oliveira, Maria Teresa Terreri
INTRODUCTION: Multiple sclerosis (MS) and neuromyelitis optica (NMO) are demyelinating diseases of the central nervous system. Autoimmunity in patients with demyelinating disease and in their families has been broadly investigated and discussed. Recent studies show a higher incidence of rheumatic autoimmune diseases among adult patients with MS or NMO and their families, but there are no studies in the pediatric population. OBJECTIVE: To evaluate an association of MS and NMO with autoimmune rheumatic diseases in pediatric patients...
September 28, 2016: Revista Brasileira de Reumatologia
Y Yamaguchi, H Torisu, R Kira, Y Ishizaki, Y Sakai, M Sanefuji, T Ichiyama, A Oka, T Kishi, S Kimura, M Kubota, J Takanashi, Y Takahashi, H Tamai, J Natsume, S Hamano, S Hirabayashi, Y Maegaki, M Mizuguchi, K Minagawa, H Yoshikawa, J Kira, S Kusunoki, T Hara
OBJECTIVE: To investigate the clinical and epidemiologic features of pediatric acquired demyelinating syndromes (ADS) of the CNS in Japan. METHODS: We conducted a nationwide survey and collected clinical data on children with ADS aged 15 years or younger, who visited hospitals between 2005 and 2007. RESULTS: Among 977 hospitals enrolled, 723 (74.0%) responded to our inquiries and reported a total of 439 patients as follows: 244 with acute disseminated encephalomyelitis (ADEM), 117 with multiple sclerosis (MS), 14 with neuromyelitis optica (NMO), and 64 with other ADS...
October 14, 2016: Neurology
Konstantin Balashov
PURPOSE OF REVIEW: This article focuses on neuroimaging in multiple sclerosis (MS), the most common central nervous system (CNS) demyelinating disorder encountered by practicing neurologists. Less common adult demyelinating disorders and incidental subclinical white matter abnormalities that are often considered in the differential diagnosis of MS are also reviewed. RECENT FINDINGS: Advancements in neuroimaging techniques, eg, the application of ultrahigh-field MRI, are rapidly expanding the use of neuroimaging in CNS demyelinating disorders...
October 2016: Continuum: Lifelong Learning in Neurology
Edgar Carnero Contentti, Mariana De Virgiliis, Javier Pablo Hryb, Felisa Leguizamon, Julia Celso, José Luis Di Pace, Mónica Perassolo
BACKGROUND: Antibodies against aquaporin-4 (AQP4-ab) have diagnostic and prognostic value. However, little is known to date about their utility in the first event of optic neuritis (ON). OBJECTIVE: To evaluate the utility of systematic AQP4-ab determination in a retrospective cohort of patients with a first onset of ON. PATIENTS AND METHODS: All patients (n = 42) were tested for AQP4-ab in the following context: typical ON (TON) and atypical ON (AON)...
October 13, 2016: European Neurology
Chen Gu
Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS). Many believe autoimmune pathogenesis plays a key role in MS, but its target(s) remains elusive. A recent study detected autoantibodies against KIR4.1, an ATP-sensitive, inward rectifier potassium channel, in nearly half of the MS patients examined. KIR4.1 channels are expressed in astrocytes. Together with aquaporin 4 (AQP4) water channels, they regulate astrocytic functions vital for myelination. Autoantibodies against AQP4 have been established as a key biomarker for neuromyelitis optica (NMO) and contributed to diagnostic and treatment strategy adjustments...
2016: Frontiers in Molecular Neuroscience
Yilong Shan, Sha Tan, Lei Zhang, Jianhua Huang, Xiaobo Sun, Yuge Wang, Wei Cai, Wei Qiu, Xueqiang Hu, Zhengqi Lu
Here, we investigated the relationship between serum 25-hydroxyvitamin D3 (25[OH]D3) levels and neuromyelitis optica spectrum disorder (NMOSD). Patients with NMOSD had lower 25(OH)D3 levels than healthy people, with lower levels in patients in the acute phase than those in remission. An inverse correlation was found between 25(OH)D3 and Expanded Disability Status Scale scores of patients during attacks. Higher serum 25(OH)D3 levels were associated with greater amelioration of symptoms during corticosteroid therapy...
October 15, 2016: Journal of Neuroimmunology
Edith V Sullivan, Barton Lane, Dongjin Kwon, M J Meloy, Susan F Tapert, Sandra A Brown, Ian M Colrain, Fiona C Baker, Michael D De Bellis, Duncan B Clark, Bonnie J Nagel, Kilian M Pohl, Adolf Pfefferbaum
Structural MRI of volunteers deemed "normal" following clinical interview provides a window into normal brain developmental morphology but also reveals unexpected dysmorphology, commonly known as "incidental findings." Although unanticipated, these anatomical findings raise questions regarding possible treatment that could even ultimately require neurosurgical intervention, which itself carries significant risk but may not be indicated if the anomaly is nonprogressive or of no functional consequence. Neuroradiological readings of 833 structural MRI from the National Consortium on Alcohol and NeuroDevelopment in Adolescence (NCANDA) cohort found an 11...
October 8, 2016: Brain Imaging and Behavior
Verónica Murta, Carina Ferrari
In recent decades, several neurodegenerative diseases have been shown to be exacerbated by systemic inflammatory processes. There is a wide range of literature that demonstrates a clear but complex relationship between the central nervous system (CNS) and the immunological system, both under naïve or pathological conditions. In diseased brains, peripheral inflammation can transform "primed" microglia into an "active" state, which can trigger stronger pathological responses. Demyelinating diseases are a group of neurodegenerative diseases characterized by inflammatory lesions associated with demyelination, which in turn induces axonal damage, neurodegeneration, and progressive loss of function...
2016: Advances in Experimental Medicine and Biology
Sithara Ramdas, Danny Morrison, Michael Absoud, Ming Lim
Optic neuritis (ON) is an acquired disorder of the optic nerve due to inflammation, demyelination or degeneration. We report a child who presented with acute onset bilateral visual loss who, following a diagnosis of ON, was treated and had excellent visual recovery. Paediatric ON is considered to be different clinical entity to adult ON. Although in children ON is usually parainfectious or postinfectious, it can be the first presenting feature of multiple sclerosis or neuromyelitis optica spectrum disease. In this paper, we discuss the literature on treatment of ON and prediction of risk of recurrence...
October 4, 2016: BMJ Case Reports
Julius Birnbaum, Nidhi M Atri, Alan N Baer, Raffaello Cimbro, Janelle Montagne, Livia Casciola-Rosen
OBJECTIVE: Sjögren's syndrome (SS) patients may be affected by the neuromyelitis optica spectrum disorder (NMOSD), a severe demyelinating syndrome associated with anti-aquaporin 4 antibodies (anti-AQP4 antibodies). The relationship between SS and NMOSD has been a sustained focus of investigation. Among SS patients, anti-AQP4 antibodies have been detected exclusively in those with NMOSD. It has therefore been speculated that NMOSD is not a neurological complication of SS. However, such studies evaluated small numbers of SS patients, often admixed with other inflammatory disorders...
October 1, 2016: Arthritis Care & Research
P Moore, C Jackson, K Mutch, A Methley, C Pollard, S Hamid, A Jacob
OBJECTIVE: This study outlines the development of a patient-reported outcome measure (PROM), an instrument to obtain self-reported health status for neuromyeltis optica (NMO), a disabling neurological condition. DESIGN: Development was conducted in accordance with international guidance for PROMs including systematic review of existing literature, item generation guided by qualitative interviews, health-related quality of life conceptual framework and clinical expert panel and cognitive interviews with NMO patients...
September 30, 2016: BMJ Open
Wildéa Lice de Carvalho Jennings Pereira, Edna Maria Vissoci Reiche, Ana Paula Kallaur, Sayonara Rangel Oliveira, Andréa Name Colado Simão, Marcell Alysson Batisti Lozovoy, Lucas José Vaz Schiavão, Paula Raquel do Vale Pascoal Rodrigues, Daniela Frizon Alfieri, Tamires Flauzino, Damacio Ramón Kaimen-Maciel
OBJECTIVE: The aim of this study was to report the frequency of autoimmune disorders and autoantibodies in 22 patients with neuromyelitis optica (NMO), as well as whether the seropositivity for autoantibodies differs between anti-aquaporin 4 (AQP4) positive and AQP4 negative NMO patients. METHODS: Demographic, medical records, and a profile of autoantibodies were evaluated in 22 NMO patients, including AQP4, anti-thyroid-stimulating hormone receptor, antinuclear antibodies (ANA), anti-thyroperoxidase (anti-TPO), anti-thyroglobulin (anti-Tg), anti-double-stranded DNA, anti-neutrophil cytoplasmic, anti-cyclic citrullinate peptide, rheumatoid factor, anti-SSA/Ro, anti-SSB/La, anti-Smith antibodies (anti-Sm), anti-ribonucleoprotein, anti-nucleosome, and anti-Scl70...
October 3, 2016: Acta Neuropsychiatrica
Tomohiko Uchida, Masahiro Mori, Akiyuki Uzawa, Hiroki Masuda, Mayumi Muto, Ryohei Ohtani, Satoshi Kuwabara
BACKGROUND: Inflammation in neuromyelitis optica (NMO) is triggered by a serum antibody against the aquaporin-4 (AQP4). This process requires antibody penetration of the blood-brain barrier (BBB), but the mechanisms for BBB disruption in NMO remain unknown. OBJECTIVE: We examined whether changes in cerebrospinal fluid (CSF) and serum matrix metalloproteinases (MMPs), tissue inhibitors of metalloproteinases (TIMPs), and cytokines are associated with BBB disruption in NMO...
September 28, 2016: Multiple Sclerosis: Clinical and Laboratory Research
Jie Lin, Binbin Xue, Xiang Li, Junhui Xia
Monoclonal-antibody has been used for patients with autoimmune disorders for several years, and efficacy and safety were appreciated for these patients. Neuromyelitis optica specturm disorder (NMOSD) has been defined as an autoimmune demyelination disorder of the central nervous system (CNS) with a course of relapse-remission. Treatment of prevention is important for patients with NMOSD because of the increased disability after several attacks. Multiple factors were involved in the pathogenesis of NMOSD. Currently, targeting specific factor was favored in the research into the treatment for NMOSD...
October 14, 2016: International Journal of Neuroscience
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