Database : MEDLINE
Search on : Demyelinating and Diseases [Words]
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[PMID]: 29524760
[Au] Autor:Di Pauli F; Reindl M; Berger T
[Ad] Address:Clinical Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria. Electronic address: franziska.dipauli@i-med.ac.at.
[Ti] Title:New clinical implications of anti-myelin oligodendrocyte glycoprotein antibodies in children with CNS demyelinating diseases.
[So] Source:Mult Scler Relat Disord;22:35-37, 2018 Feb 22.
[Is] ISSN:2211-0356
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Acquired demyelinating CNS syndromes include a broad spectrum of clinical phenotypes and different entities can overlap. Therefore, differential diagnosis is still challenging. A humoral immune reaction against myelin oligodendrocyte glycoprotein (MOG) is present in a subgroup of these patients, particularly in children. Anti-MOG antibodies indicate a non-multiple sclerosis disease course. Indeed, early publications have suggested that anti-MOG antibodies argue for a monophasic course; recently an association with a high risk for recurrent non-MS disease has been shown. According new data, antibody analysis was included in a diagnostic algorithm for the diagnosis of acquired demyelinating CNS syndromes in children. Here, recent data from the implementation of anti-MOG antibodies in daily clinical practice are reviewed.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  2 / 18401 MEDLINE  
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[PMID]: 29524758
[Au] Autor:Shahmohammadi S; Sahraian MA; Shahmohammadi A; Doosti R; Zare-Mirzaie A; Naser Moghadasi A
[Ad] Address:MS Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
[Ti] Title:A presentation of ulcerative colitis after rituximab therapy in a patient with multiple sclerosis and literature review.
[So] Source:Mult Scler Relat Disord;22:22-26, 2018 Mar 01.
[Is] ISSN:2211-0356
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Multiple sclerosis (MS) is one of the most important demyelinating diseases that affects the central nervous system. Its treatment often involves a long-term disease modifying therapy. According to some studies, the prevalence of autoimmune disorders, such as autoimmune hepatitis (AIH) and ulcerative colitis (UC) is higher in MS patients than in the normal population. There are also few studies that have reported the onset of UC after rituximab therapy. The present study presents a report of a 31-years old female patient suffering from aggressive multiple sclerosis, which developed into autoimmune hepatitis during the MS therapy. Thereafter, she received rituximab for the treating both MS and AIH. One week after the third cycle of rituximab (6 doses of 1000 mg), she experienced abdominal pain, fever, and severe bloody diarrhea; finally, she was diagnosed with ulcerative colitis (UC). It seems that the administration of certain immunomodulators or immunosuppressive drugs may have a main role in the exacerbation of some autoimmune diseases.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  3 / 18401 MEDLINE  
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[PMID]: 29451896
[Au] Autor:Ji H; Li D; Wu Y; Zhang Q; Gu Q; Xie H; Ji T; Wang H; Zhao L; Zhao H; Yang Y; Feng H; Xiong H; Ji J; Yang Z; Kou L; Li M; Bao X; Chang X; Zhang Y; Li L; Li H; Niu Z; Wu X; Xiao J; Jiang Y; Wang J
[Ad] Address:Department of Pediatrics, Peking University First Hospital, Beijing, China.
[Ti] Title:Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
[So] Source:PLoS One;13(2):e0188869, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population. METHODS: 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated based on their history, clinical manifestation, laboratory examinations, series of brain MRI with follow-up, genetic etiological tests including chromosomal analysis, multiplex ligation probe amplification, Sanger sequencing, targeted enrichment-based next-generation sequencing and whole exome sequencing. RESULTS: Clinical and genetic features of hypomyelinating disorders were revealed. Nine different hypomyelinating disorders were identified in 119 patients: Pelizaeus-Merzbacher disease (94, 79%), Pelizaeus-Merzbacher-like disease (10, 8%), hypomyelination with atrophy of the basal ganglia and cerebellum (3, 3%), GM1 gangliosidosis (5, 4%), GM2 gangliosidosis (3, 3%), trichothiodystrophy (1, 1%), Pol III-related leukodystrophy (1, 1%), hypomyelinating leukodystrophy type 9 (1, 1%), and chromosome 18q deletion syndrome (1, 1%). Of the sample, 94% (112/119) of the patients were genetically diagnosed, including 111 with mutations distributing across 9 genes including PLP1, GJC2, TUBB4A, GLB1, HEXA, HEXB, ERCC2, POLR3A, and RARS and 1 with mosaic chromosomal change of 46, XX,del(18)(q21.3)/46,XX,r(18)(p11.32q21.3)/45,XX,-18. Eighteen novel mutations were discovered. Mutations in POLR3A and RARS were first identified in Chinese patients with Pol III-related leukodystrophy and hypomyelinating leukodystrophy, respectively. SIGNIFICANCE: This is the first report on clinical and genetic features of hypomyelinating disorders with a large sample of patients in Chinese population, identifying 18 novel mutations especially mutations in POLR3A and RARS in Chinese patients, expanding clinical and genetic spectrums of hypomyelinating disorders.
[Mh] MeSH terms primary: Genetic Heterogeneity
Hereditary Central Nervous System Demyelinating Diseases/epidemiology
[Mh] MeSH terms secundary: China/epidemiology
Chromosome Banding
Female
Hereditary Central Nervous System Demyelinating Diseases/diagnostic imaging
Hereditary Central Nervous System Demyelinating Diseases/genetics
Hereditary Central Nervous System Demyelinating Diseases/pathology
Humans
Infant
Infant, Newborn
Karyotyping
Magnetic Resonance Imaging
Male
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180217
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0188869

  4 / 18401 MEDLINE  
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[PMID]: 29518270
[Au] Autor:Hu B; Mccollum M; Ravi V; Arpag S; Moiseev D; Castoro R; Mobley BC; Burnette BW; Siskind C; Day JW; Yawn R; Feely S; Li Y; Yan Q; Shy ME; Li J
[Ad] Address:Department of Neurology, Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
[Ti] Title:Myelin Abnormality in CMT4J Recapitulates Features of Acquired Demyelination.
[So] Source:Ann Neurol;, 2018 Mar 08.
[Is] ISSN:1531-8249
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J. METHODS: Over the past 9 years, we have enrolled and studied a cohort of 12 CMT4J patients, including 6 novel FIG4 mutations. We evaluated these patients and related mouse models using morphological, electrophysiological and biochemical approaches. RESULTS: We found sensory motor demyelinating polyneuropathy consistently in all patients. This underlying myelin pathology was associated with non-uniform slowing of conduction velocities, conduction block, and temporal dispersion on nerve conduction studies (NCS), which resemble those features in acquired demyelinating peripheral nerve diseases. Segmental demyelination was also confirmed in mice without Fig4 (Fig4 ). The demyelination was associated with an increase of Schwann cell dedifferentiation and macrophages in spinal roots where nerve blood barriers are weak. Schwann cell dedifferentiation was induced by the increasing intracellular Ca . Suppression of Ca level by a chelator reduced dedifferentiation and demyelination of Schwann cells in vitro and in vivo. Interestingly, cell-specific knockout of Fig4 in mouse Schwann cells or neurons failed to cause segmental demyelination. INTERPRETATION: Myelin change in CMT4J recapitulates the features of acquired demyelinating neuropathies. This pathology is not Schwann cell autonomous. Instead, it relates to systemic processes involving interactions of multiple cell types and abnormally elevated intracellular Ca . Injection of a Ca chelator in Fig4 mice improved segmental demyelination, thereby providing a therapeutic strategy against demyelination. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1002/ana.25198

  5 / 18401 MEDLINE  
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[PMID]: 28470584
[Au] Autor:Jang B; Jeon YC; Shin HY; Lee YJ; Kim H; Kondo Y; Ishigami A; Kim YS; Choi EK
[Ad] Address:Ilsong Institute of Life Science, Hallym University, 15 Gwanpyeong-ro 170beon-gil, Anyang, Gyeonggi-do, 14066, Republic of Korea.
[Ti] Title:Myelin Basic Protein Citrullination, a Hallmark of Central Nervous System Demyelination, Assessed by Novel Monoclonal Antibodies in Prion Diseases.
[So] Source:Mol Neurobiol;55(4):3172-3184, 2018 Apr.
[Is] ISSN:1559-1182
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Myelin basic protein (MBP) citrullination by peptidylarginine deiminase (PAD) enzymes leads to incomplete protein-lipid bilayer interactions and vulnerability to proteolytic enzymes, resulting in disorganization of the myelin sheath in the central nervous system. Therefore, citrullinated MBP (citMBP) has been suggested as a hallmark of demyelination, but how citMBP is implicated in prion diseases remains unknown. For the first time, we developed mouse monoclonal anti-citMBP IgG1 (clones 1B8, 1H1, and 3C6) and IgM (clone 3G5) antibodies that recognize human citMBP at its R25, R122, and R130 residues and at its C-terminal region (or the corresponding sites in mouse MBP), respectively. Using a biochemical, immunohistochemical, and immunogold-silver staining for electron microscopy techniques, we found that MBP residue R23 (corresponding to human R25) was specifically citrullinated, was stained as intense punctae in the corpus callosum, the striatum, and the cerebellar white matter, and was predominantly localized in disorganized myelin in the brains of scrapie-infected mice. In the brains of Creutzfeldt-Jakob disease (CJD) patients, MBP residues R25, R122, and R130 were markedly citrullinated and were stained as fibrils and punctae. In particular, white matter regions, such as the midbrain and the medulla, exhibited high levels of citMBP compared to other regions. However, the high levels of citMBP were not correlated with PAD2 expression. The clone 3G5 recognized significantly increased expression of the 18.5 kDa and/or 21.5 kDa variants of MBP in prion disease. Our findings suggest that significantly increased levels of citMBP may reflect demyelinating neuropathology, and that these newly developed antibodies may be useful for identifying demyelination.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1007/s12035-017-0560-0

  6 / 18401 MEDLINE  
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[PMID]: 29517417
[Au] Autor:Wietek S
[Ad] Address:Octapharma Pharmazeutika Produktionsges.m.b.H., Global Medical & Scientific Affairs, Vienna, Austria.
[Ti] Title:Octagam for chronic inflammatory demyelinating polyneuropathy: results from three observational studies.
[So] Source:Neurodegener Dis Manag;, 2018 Mar 08.
[Is] ISSN:1758-2032
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:AIM: To present data from three studies of a Post-Authorization Safety Surveillance (PASS) program for the subset of patients receiving octagam 5% or 10% for chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: Data on patients with CIDP treated with octagam were analyzed to assess its safety and tolerability. RESULTS: Of 2314 patients included in the studies, 58 patients (mean age: 64.6 years) received octagam for CIDP, mean dose of which was 0.8 g/kg body weight/course. 81% of observations for clinical appearance since last observation were assessed as stable and 16.6% showed an improved clinical appearance with treatment. Adverse drug reactions were rare (<0.7% of infusions). CONCLUSION: Octagam was effective and well-tolerated in patients with CIDP.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.2217/nmt-2018-0006

  7 / 18401 MEDLINE  
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[PMID]: 29428829
[Au] Autor:Remacle AG; Dolkas J; Angert M; Hullugundi SK; Chernov AV; Jones RCW; Shubayev VI; Strongin AY
[Ad] Address:Infectious and Inflammatory Disease Center/Cancer Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
[Ti] Title:A sensitive and selective ELISA methodology quantifies a demyelination marker in experimental and clinical samples.
[So] Source:J Immunol Methods;455:80-87, 2018 Apr.
[Is] ISSN:1872-7905
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Sciatic nerve chronic constriction injury (CCI) in rodents produces nerve demyelination via proteolysis of myelin basic protein (MBP), the major component of myelin sheath. Proteolysis releases the cryptic MBP epitope, a demyelination marker, which is hidden in the native MBP fold. It has never been established if the proteolytic release of this cryptic MBP autoantigen stimulates the post-injury increase in the respective circulating autoantibodies. To measure these autoantibodies, we developed the ELISA that employed the cryptic 84-104 MBP sequence (MBP84-104) as bait. This allowed us, for the first time, to quantify the circulating anti-MBP84-104 autoantibodies in rat serum post-CCI. The circulating IgM (but not IgG) autoantibodies were detectable as soon as day 7 post-CCI. The IgM autoantibody level continually increased between days 7 and 28 post-injury. Using the rat serum samples, we established that the ELISA intra-assay (precision) and inter-assay (repeatability) variability parameters were 2.87% and 4.58%, respectively. We also demonstrated the ELISA specificity by recording the autoantibodies to the liberated MBP84-104 epitope alone, but not to intact MBP in which the 84-104 region is hidden. Because the 84-104 sequence is conserved among mammals, we tested if the ELISA was applicable to detect demyelination and quantify the respective autoantibodies in humans. Our limited pilot study that involved 16 female multiple sclerosis and fibromyalgia syndrome patients demonstrated that the ELISA was efficient in measuring both the circulating IgG- and IgM-type autoantibodies in patients exhibiting demyelination. We believe that the ELISA measurements of the circulating autoantibodies against the pathogenic MBP84-104 peptide may facilitate the identification of demyelination in both experimental and clinical settings. In clinic, these measurements may assist neurologists to recognize patients with painful neuropathy and demyelinating diseases, and as a result, to personalize their treatment regimens.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review

  8 / 18401 MEDLINE  
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[PMID]: 29361054
[Au] Autor:Truch K; Arter J; Turnescu T; Weider M; Hartwig AC; Tamm ER; Sock E; Wegner M
[Ad] Address:Institut für Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander Universität Erlangen-Nürnberg, D-91054 Erlangen, Germany.
[Ti] Title:Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease.
[So] Source:Hum Mol Genet;27(6):1078-1092, 2018 Mar 15.
[Is] ISSN:1460-2083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Human SOX10 mutations lead to various diseases including Waardenburg syndrome, Hirschsprung disease, peripheral demyelinating neuropathy, central leukodystrophy, Kallmann syndrome and various combinations thereof. It has been postulated that PCWH as a combination of Waardenburg and Hirschsprung disease, peripheral neuropathy and central leukodystrophy is caused by heterozygous SOX10 mutations that result in the presence of a dominantly acting mutant SOX10 protein in the patient. One such protein with postulated dominant action is SOX10 Q377X. In this study, we generated a mouse model, in which the corresponding mutation was introduced into the Sox10 locus in such a way that Sox10 Q377X is constitutively expressed. Heterozygous mice carrying this mutation exhibited pigmentation and enteric nervous system defects similar to mice in which one Sox10 allele was deleted. However, despite presence of the mutant protein in Schwann cells and oligodendrocytes throughout development and in the adult, we found no phenotypic evidence for neurological defects in peripheral or central nervous systems. In the nervous system, the mutant Sox10 protein did not act in a dominant fashion but rather behaved like a hypomorph with very limited residual function. Our results question a strict genotype-phenotype correlation for SOX10 mutations and argue for the influence of additional factors including genetic background.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1093/hmg/ddy029

  9 / 18401 MEDLINE  
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[PMID]: 29346632
[Au] Autor:Ferretti F; Bestetti A; Yiannoutsos CT; Musick BS; Gerevini S; Passeri L; Bossolasco S; Boschini A; Franciotta D; Lazzarin A; Cinque P
[Ad] Address:Department of Infectious Diseases, San Raffaele Scientific Institute, Milano, Italy.
[Ti] Title:Diagnostic and prognostic value of JC virus DNA in plasma in Progressive Multifocal Leukoencephalopathy.
[So] Source:Clin Infect Dis;, 2018 Jan 15.
[Is] ISSN:1537-6591
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Background: Progressive multifocal leukoencephalopathy (PML) is a severe demyelinating disease caused by the polyomavirus JC (JCV) affecting subjects with impaired immune system. While JCV-DNA detection in cerebrospinal fluid (CSF) is diagnostic of PML, the clinical significance of plasma JCV-DNA is still uncertain. Methods: We retrospectively analyzed plasma samples drawn from patients with PML close to disease onset, and controls without PML. In PML patients, we compared plasma JCV DNA detection and levels to: JCV DNA in the other biological samples, clinical and laboratory parameters and patients' survival. Results: JCV-DNA was detected in plasma of 49/103 (48%) patients with PML (20/24, 83%, HIV-negative; 29/79, 37%, HIV-positive) and of 4/144 (3%) controls without PML (0/95 HIV-negative; 4/49, 8%, HIV-positive), yielding a diagnostic sensitivity and specificity of, respectively, 48% and 97% (83% and 100% in HIV-negative; 37% and 92% in HIV-positive). Among 16 PML patients with undetectable CSF JCV-DNA, 4 (25%) had detectable plasma JCV-DNA. Plasma JCV-DNA levels were independently associated with those in the CSF (p<0.0001) and previous corticosteroid treatment (p=0.012). Higher plasma JCV-DNA levels were associated with disease progression in HIV-negative patients (p=0.005), while among HIV-positive patients, they identified an increased risk of progression only in those treated with combined antiretroviral thearapy (cART)(p<0.0001). Conclusions: Testing JCV-DNA on plasma samples might complement PML diagnosis, especially when CSF is unavailable or JCV-DNA not detectable in CSF. In addition, JCV-DNA plasma levels could be useful as a marker of disease progression in both HIV-negative and cART-treated HIV-positive PML patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/cid/ciy030

  10 / 18401 MEDLINE  
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[PMID]: 29498007
[Au] Autor:Singhal NK; Alkhayer K; Shelestak J; Clements R; Freeman E; McDonough J
[Ad] Address:Department of Biological Sciences and School of Biomedical Sciences, Kent State University, Kent, OH, 44242, USA. nsingha1@kent.edu.
[Ti] Title:Erythropoietin Upregulates Brain Hemoglobin Expression and Supports Neuronal Mitochondrial Activity.
[So] Source:Mol Neurobiol;, 2018 Mar 01.
[Is] ISSN:1559-1182
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Multiple sclerosis (MS) is a neuro-inflammatory and demyelinating disease. Downregulation of neuronal mitochondrial gene expression and activity have been reported in several studies of MS. We have previously shown that hemoglobin-ß (Hbb) signals to the nucleus of neurons and upregulates H3K4me3, a histone mark involved in regulating cellular metabolism and differentiation. The present study was undertaken to evaluate the effect of erythropoietin (EPO) on the upregulation of hemoglobin and mitochondrial-associated neuroprotection. We found that administering EPO (5000 IU/kg intraperitoneally) to mice upregulated brain Hbb expression, levels of H3K4me3, expression of mitochondrial complex III, complex V, and mitochondrial respiration. We also found that the neuronal mitochondrial metabolite N-acetylaspartate (NAA), a marker of neuronal mitochondrial activity, was increased with EPO treatment. Further, we measured the effects of EPO on preventing mitochondrial deficits in the cuprizone toxic demyelinating mouse model of MS. We found that EPO prevented cuprizone-mediated decreases in Hbb, complex III, and NAA. Our data suggest that EPO mediated regulation of Hbb supports neuronal energetics and may provide neuroprotection in MS and other neurodegenerative diseases where a dysfunction of mitochondria contributes to disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:Publisher
[do] DOI:10.1007/s12035-018-0971-6


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