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demyelinating disorder

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https://www.readbyqxmd.com/read/28633435/mcm3ap-in-recessive-charcot-marie-tooth-neuropathy-and-mild-intellectual-disability
#1
Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, Yesim Parman, Koen L I van Gassen, Marie-José H van den Boogaard, Kym M Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild to moderate intellectual disability was present in seven of nine affected individuals. The affected individuals were either compound heterozygous or homozygous for different MCM3AP variants, which were predicted to cause depletion of GANP or affect conserved amino acids with likely importance for its function...
June 19, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28625589/acute-disseminated-encephalomyelitis-in-dengue-viral-infection
#2
REVIEW
Wan Aliaa Wan Sulaiman, Liyana Najwa Inche Mat, Hasnur Zaman Hashim, Fan Kee Hoo, Siew Mooi Ching, Ramachandran Vasudevan, Mohd Hazmi Mohamed, Hamidon Basri
Dengue is the most common arboviral disease affecting many countries worldwide. An RNA virus from the flaviviridae family, dengue has four antigenically distinct serotypes (DEN-1-DEN-4). Neurological involvement in dengue can be classified into dengue encephalopathy immune-mediated syndromes, encephalitis, neuromuscular or dengue muscle dysfunction and neuro-ophthalmic involvement. Acute disseminated encephalomyelitis (ADEM) is an immune mediated acute demyelinating disorder of the central nervous system following recent infection or vaccination...
June 15, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28625338/acute-diplopia-in-the-pediatric-emergency-department-a-cohort-multicenter-italian-study
#3
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, Francesco La Penna, Valentina Ferro, Lucia Calistri, Claudia Bondone, Fabio Midulla, Agnese Suppiej, Raffaele Falsaperla, Duccio Maria Cordelli, Antonella Palmieri, Alberto Verrotti, Sabrina Becciani, Sonia Aguzzi, Mario Mastrangelo, Federica Pelizza, Filippo Greco, Giulia Carbonari, Ramona Tallone, Gabriella Bottone, Italo Trenta, Stefano Masi, Maria Pia Villa, Antonino Reale
BACKGROUND: Acute diplopia (AD) is an uncommon and distressing symptom of numerous ocular and neurological conditions, with potentially serious sequelaes. No data are present in pediatrics on the presentation and management of AD. AIM: This study investigated characteristics, etiology and health care utilization of the pediatric population with AD accessed to pediatric Emergency Departments (ED), trying to identify "red flags" associated with potentially life-threatening (LT) conditions...
June 3, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28619074/novel-oligodendroglial-alpha-synuclein-viral-vector-models-of-multiple-system-atrophy-studies-in-rodents-and-nonhuman-primates
#4
Ronald J Mandel, David J Marmion, Deniz Kirik, Yaping Chu, Clifford Heindel, Thomas McCown, Steven J Gray, Jeffrey H Kordower
Multiple system atrophy (MSA) is a horrible and unrelenting neurodegenerative disorder with an uncertain etiology and pathophysiology. MSA is a unique proteinopathy in which alpha-synuclein (α-syn) accumulates preferentially in oligodendroglia rather than neurons. Glial cytoplasmic inclusions (GCIs) of α-syn are thought to elicit changes in oligodendrocyte function, such as reduced neurotrophic support and demyelination, leading to neurodegeneration. To date, only a murine model using one of three promoters exist to study this disease...
June 16, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28618073/drug-discovery-for-remyelination-and-treatment-of-ms
#5
REVIEW
Katy L H Cole, Jason J Early, David A Lyons
Glia constitute the majority of the cells in our nervous system, yet there are currently no drugs that target glia for the treatment of disease. Given ongoing discoveries of the many roles of glia in numerous diseases of the nervous system, this is likely to change in years to come. Here we focus on the possibility that targeting the oligodendrocyte lineage to promote regeneration of myelin (remyelination) represents a therapeutic strategy for the treatment of the demyelinating disease multiple sclerosis, MS...
June 15, 2017: Glia
https://www.readbyqxmd.com/read/28617385/-differential-diagnosis-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
#6
A A Moroz, N Yu Abramycheva, M S Stepanova, R N Konovalov, S L Timerbaeva, S N Illarioshkin
Cerebral autosomal dominant arteriopathy with subcortical infarctions and leucoencephalopathy (CADASIL) is an inherited CNS disease, which is caused by mutations in the NOTCH3 gene. Selective disorders of small vessels underlie the disease pathogenesis. Clinically CADASIL is characterized by headaches, multiple stroke-like disorders (in most cases transient ischemic attacks and lacunar strokes), and different focal neurological symptoms and dementia. There are specific MRI signs of the disease: multiple lacunar infarctions located in the basal ganglia, brain steam and cerebellum, focal lesions of temporal poles, capsula externa, periventricular and subcortical areas; diffuse white matter changes and leukoaraiosis can be observed as well...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28615429/diagnostic-algorithm-for-relapsing-acquired-demyelinating-syndromes-in-children
#7
Yael Hacohen, Kshitij Mankad, W K Chong, Frederik Barkhof, Angela Vincent, Ming Lim, Evangeline Wassmer, Olga Ciccarelli, Cheryl Hemingway
OBJECTIVE: To establish whether children with relapsing acquired demyelinating syndromes (RDS) and myelin oligodendrocyte glycoprotein antibodies (MOG-Ab) show distinctive clinical and radiologic features and to generate a diagnostic algorithm for the main RDS for clinical use. METHODS: A panel reviewed the clinical characteristics, MOG-Ab and aquaporin-4 (AQP4) Ab, intrathecal oligoclonal bands, and Epstein-Barr virus serology results of 110 children with RDS. A neuroradiologist blinded to the diagnosis scored the MRI scans...
June 14, 2017: Neurology
https://www.readbyqxmd.com/read/28608315/effectiveness-of-low-dose-of-rituximab-compared-with-azathioprine-in-chinese-patients-with-neuromyelitis-optica-an-over-2-year-follow-up-study
#8
Meini Zhang, Chuntao Zhang, Peng Bai, Huiru Xue, Guilian Wang
Neuromyelitis optical (NMO) and neuromyelitis optical spectrum disorder (NMOSD) are inflammatory autoimmune demyelination diseases affecting the central nervous system. We investigated the efficiency of low-dose rituximab treatment in 31 Chinese patients with NMO/NMOSD across a median period of 2.29 ± 0.97 years and azathioprine combined with corticosteroid treatment in 34 Chinese patients with NMO/NMOSD across a median period of 2.61 ± 0.94 years. Among the rituximab-treated patients, the mean Expanded Disability Status Scale (EDSS) was 5...
June 12, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28601277/late-onset-neuromyelitis-optica-mimicking-an-acute-stroke-in-an-elderly-patient
#9
Kushak Suchdev, Sara Razmjou, Praveen Venkatachalam, Omar A Khan, Wazim Mohamed, Mohammed S Ibrahim
Neuromyelitis optica spectrum disorder (NMOSD) was recently proposed as a unifying term for Neuromyelitis optica (NMO) and related syndromes to incorporate patients with NMO antibody but without the full clinical spectrum. NMO is a rare, demyelinating condition which predominantly affects females with a peak incidence in the third and fourth decade of life. We report a case of NMOSD in an elderly patient with extremely late onset (>80years) of disease. The patient presented with findings of sudden onset unilateral symptoms, which is extremely unusual for NMOSD...
August 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28600575/altered-humoral-immunity-to-mycobacterial-antigens-in-japanese-patients-affected-by-inflammatory-demyelinating-diseases-of-the-central-nervous-system
#10
Davide Cossu, Kazumasa Yokoyama, Yuji Tomizawa, Eiichi Momotani, Nobutaka Hattori
Mycobacterium avium subsp. paratuberculosis (MAP) and Mycobacterium bovis (BCG) have been associated to several human autoimmune diseases such as multiple sclerosis (MS), but there are conflicting evidence on the issue. The objective of this study is to evaluate their role in Japanese patients affected by inflammatory demyelinating disorders of the central nervous system (IDDs). A total of 97 IDDs subjects including 51 MS and 46 neuromyelitis optica spectrum disorder (NMOSD) patients, and 34 healthy controls (HCs) were tested for the detection of IgG, IgM and IgA against mycobacterial antigens by indirect ELISA...
June 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28597710/comparing-treatment-options-for-chronic-inflammatory-neuropathies-and-choosing-the-right-treatment-plan
#11
Eduardo Nobile-Orazio, Francesca Gallia, Fabrizia Terenghi, Mariangela Bianco
Chronic inflammatory neuropathies are disorders caused by an immune response to peripheral nerve. They include chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), multifocal motor neuropathy (MMN) and neuropathy associated with anti-MAG IgM monoclonal gammopathy and other less frequent neuropathies. Several immune therapies have been proven to be effective in these neuropathies even if the best therapeutic option is still unsettled. Areas covered: The authors reviewed the literature to compare the efficacy and safety of currently used immune therapies in these neuropathies...
June 9, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28583039/experimental-models-of-autoimmune-demyelinating-diseases-in-nonhuman-primates
#12
Lev Stimmer, Claire-Maëlle Fovet, Ché Serguera
Human idiopathic inflammatory demyelinating diseases (IIDD) are a heterogeneous group of autoimmune inflammatory and demyelinating disorders of the central nervous system (CNS). These include multiple sclerosis (MS), the most common chronic IIDD, but also rarer disorders such as acute disseminated encephalomyelitis (ADEM) and neuromyelitis optica (NMO). Great efforts have been made to understand the pathophysiology of MS, leading to the development of a few effective treatments. Nonetheless, IIDD still require a better understanding of the causes and underlying mechanisms to implement more effective therapies and diagnostic methods...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28580582/modulating-inflammation-and-neuroprotection-in-multiple-sclerosis
#13
REVIEW
Heather Yong, Gabrielle Chartier, Jacqueline Quandt
Multiple sclerosis (MS) is a neurological disorder of the central nervous system with a presentation and disease course that is largely unpredictable. MS can cause loss of balance, impaired vision or speech, weakness and paralysis, fatigue, depression, and cognitive impairment. Immunomodulation is a major target given the appearance of focal demyelinating lesions in myelin-rich white matter, yet progression and an increasing appreciation for gray matter involvement, even during the earliest phases of the disease, highlights the need to afford neuroprotection and limit neurodegenerative processes that correlate with disability...
June 5, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28575198/autoantibodies-to-nodal-isoforms-of-neurofascin-in-chronic-inflammatory-demyelinating-polyneuropathy
#14
Emilien Delmont, Constance Manso, Luis Querol, Andrea Cortese, Angela Berardinelli, Alessandro Lozza, Maya Belghazi, Pauline Malissart, Pierre Labauge, Guillaume Taieb, Nobuhiro Yuki, Isabel Illa, Shahram Attarian, Jérôme J Devaux
Chronic inflammatory demyelination polyneuropathy is a heterogeneous and treatable immune-mediated disorder that lacks biomarkers to support diagnosis. Recent evidence indicates that paranodal proteins (contactin 1, contactin-associated protein 1, and neurofascin-155) are the targets of autoantibodies in subsets of patients showing distinct clinical presentations. Here, we identified neurofascin-186 and neurofascin-140 as the main targets of autoantibodies in five patients presenting IgG reactivity against the nodes of Ranvier...
May 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28571193/recurrent-longitudinally-extensive-myelitis-and-aquaporin-4-seronegativity-the-expanding-spectrum-of-neuromyelitis-optica
#15
Ravi Anadure, Coimbatore Sivasubramanian Narayanan, Govindaraj Varadraj
Neuromyelitis Optica Spectrum Disorder (NMOSD) is a recently proposed unifying term for Neuromyelitis Optica (NMO), also known as Devic's disease and related syndromes. It is a relapsing inflammatory demyelinating disease that most commonly affects optic nerves and the spinal cord, leading to sudden vision loss or weakness in one or both eyes, and loss of sensation and bladder function. Though inflammation may also involve the brain, the lesions seen in NMO are different from Multiple Sclerosis (MS) which has a similar clinical course...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28570324/neurologic-complications-of-lymphoma-leukemia-and-paraproteinemias
#16
Michelle L Mauermann
PURPOSE OF REVIEW: This article reviews the spectrum of neurologic complications associated with lymphoma, leukemia, and paraproteinemic disorders. While leptomeningeal metastasis is the most common complication of lymphoma and leukemia and peripheral neuropathy is the most common complication of paraproteinemic disorders, clinicians need to be familiar with the diverse neurologic complications of these disorders. RECENT FINDINGS: Lymphomatous nervous system involvement can be difficult to diagnose, especially when it is the presenting symptom...
June 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28567989/the-novel-synthetic-microneurotrophin-bnn27-protects-mature-oligodendrocytes-against-cuprizone-induced-death-through-the-ngf-receptor-trka
#17
Giulia Bonetto, Ioannis Charalampopoulos, Achille Gravanis, Domna Karagogeos
BNN27, a member of a chemical library of C17-spiroepoxy derivatives of the neurosteroid DHEA, has been shown to regulate neuronal survival through its selective interaction with NGF receptors (TrkA and p75(NTR) ), but its role on glial populations has not been studied. Here, we present evidence that BNN27 provides trophic action (rescue from apoptosis), in a TrkA-dependent manner, to mature oligodendrocytes when they are challenged with the cuprizone toxin in culture. BNN27 treatment also increases oligodendrocyte maturation and diminishes microglia activation in vitro...
August 2017: Glia
https://www.readbyqxmd.com/read/28567523/bystander-mechanism-for-complement-initiated-early-oligodendrocyte-injury-in-neuromyelitis-optica
#18
Lukmanee Tradtrantip, Xiaoming Yao, Tao Su, Alex J Smith, Alan S Verkman
Neuromyelitis optica spectrum disorder (herein called NMO) is an autoimmune inflammatory disease of the central nervous system in which immunoglobulin G antibodies against astrocyte water channel aquaporin-4 (AQP4-IgG) cause demyelination and neurological deficit. Injury to oligodendrocytes, which do not express AQP4, links the initiating pathogenic event of AQP4-IgG binding to astrocyte AQP4 to demyelination. Here, we report evidence for a complement 'bystander mechanism' to account for early oligodendrocyte injury in NMO in which activated, soluble complement proteins following AQP4-IgG binding to astrocyte AQP4 result in deposition of the complement membrane attack complex (MAC) on nearby oligodendrocytes...
July 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28562101/methionine-metabolism-and-multiple-sclerosis
#19
Zuzana Bystrická, Lucia Laubertová, Monika Ďurfinová, Zuzana Paduchová
CONTEXT: Methylation reactions are particularly important in the brain and their inhibition can lead to a number of serious pathologies. Multiple sclerosis is one of the most common neurological disorders caused by interaction of genetic and environmental factors, but little is known about its cause or factors that contribute to the disorder. Although multiple sclerosis is primarily regarded as demyelinating disorder, there are no many articles focusing on methionine determination. OBJECTIVE: The aim of this work was to investigate whether serum methionine and its related compounds like homocysteine, cysteine, glutathione and asymmetric dimethylarginine were changed in multiple sclerosis patients...
June 6, 2017: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/28557239/the-neuroprotective-effect-of-mesenchymal-stem-cells-on-an-experimentally-induced-model-for-multiple-sclerosis-in-mice
#20
Marwa M Mahfouz, Rania M Abdelsalam, Marwa A Masoud, Hanaa A Mansour, Omar A Ahmed-Farid, Sanaa A Kenawy
Multiple sclerosis (MS) is a chronic autoimmune demyelinating neurodegenerative central nervous system disorder. The aim of the present study was to investigate the prophylactic effect exerted by the one-time intraperitoneal injection of mesenchymal stem cells (MSCs) 1 × 10(6) and 14-day intraperitoneal injection of methylprednisolone (MP) 40 mg/kg in an experimental autoimmune encephalomyelitis (EAE). EAE was induced by intradermal injection of rat spinal cord homogenate with complete Freund's adjuvant in Swiss mice...
May 29, 2017: Journal of Biochemical and Molecular Toxicology
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