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Leukoencephalopathy

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https://www.readbyqxmd.com/read/29147736/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-not-always-lactate-elevation
#1
Ralph Werner, Elisabeth Daum, Stephan Felber, Johannes C Wöhrle
No abstract text is available yet for this article.
November 16, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29146954/multiple-sclerosis-progressive-multifocal-leukoencephalopathy-risk-stratification
#2
Kalliopi Pitarokoili, Ralf Gold
No abstract text is available yet for this article.
November 17, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29146215/-acute-methotrexate-related-neurotoxicity-and-pseudo-stroke-syndrome
#3
V Deneux, N Leboucq, L Saumet, S Haouy, T Akbaraly, N Sirvent
Treatment of acute lymphoblastic leukemia requires high-dose systemic and/or intrathecal methotrexate to prevent and/or treat central nervous system disorders. Acute neurotoxicity of methotrexate, of unknown etiopathogenesis, is characterized by the polymorphism of clinical manifestations, responsible for a potentially harmful diagnostic delay in these immunosuppressed patients. We describe five episodes of transient acute leukoencephalopathy mimicking a stroke, reported in the literature as "pseudo-stroke syndrome"...
November 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29143589/biomarkers-in-the-evolution-of-multiple-sclerosis
#4
Thomas Berger
Nonimaging biomarkers can be applied in differential diagnosis, evaluation of disease progression and therapy monitoring of multiple sclerosis (MS). Presence of oligoclonal IgG bands in cerebrospinal fluid is a diagnostic element and a negative predictor of MS evolution. AQP4 antibodies are pathogenic and diagnostic for neuromyelitis optica spectrum disorder. Antibodies to myelin oligodendrocyte glycoprotein develop in about 50% of predominantly pediatric patients with acute disseminated encephalomyelitis, but their possible role in pathogenesis is unknown...
November 2017: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/29142146/inflammatory-natalizumab-associated-pml-baseline-characteristics-lesion-evolution-and-relation-with-pml-iris
#5
Mike P Wattjes, Martijn T Wijburg, Jeroen van Eijk, Stephan Frequin, Bernard M J Uitdehaag, Frederik Barkhof, Clemens Warnke, Joep Killestein
BACKGROUND AND OBJECTIVE: Natalizumab-associated progressive multifocal leukoencephalopathy (NTZ-PML) patients may show imaging signs suggestive of inflammation at diagnosis ('inflammatory PML'), reminiscent of PML-immune reconstitution inflammatory syndrome (PML-IRIS). We investigated the imaging characteristics of inflammatory NTZ-PML lesions and PML-IRIS to determine differentiating and overlapping features. METHODS: We scored the presence, localisation and pattern of imaging characteristics of inflammation on brain MRI scans of inflammatory NTZ-PML patients...
November 15, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29142140/imaging-and-csf-analyses-effectively-distinguish-cjd-from-its-mimics
#6
Peter Rudge, Harpreet Hyare, Alison Green, John Collinge, Simon Mead
OBJECTIVE: To review clinical and investigation findings in patients referred to a specialist prion clinic who were suspected to have sporadic Creutzfeldt-Jakob disease (sCJD) and yet were found to have an alternative final diagnosis. METHODS: Review the clinical findings and investigations in 214 patients enrolled into the UK National Prion Monitoring Cohort Study between October 2008 and November 2015 who had postmortem confirmed sCJD and compare these features with 50 patients referred over the same period who had an alternative final diagnosis (CJD mimics)...
November 15, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29139004/progressive-multifocal-leukoencephalopathy-in-the-absence-of-immunosuppression
#7
Benjamin E Zucker, Sybil R L Stacpoole
A 69-year-old woman presented with a cortical hand syndrome progressing over several weeks. MRI brain showed characteristic appearances of progressive multifocal leukoencephalopathy (PML), confirmed by detection of the JC virus in CSF, despite the absence of any evidence of immunosuppression. Treatment with mirtazapine, mefloquine and cidofovir did not affect the progression of the disease, which was fatal within 7 months of presentation. This report adds to the small case literature that suggests that PML can occur in immunocompetent people, albeit extremely rarely...
November 14, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/29138691/a-novel-dars2-mutation-in-a-japanese-patient-with-leukoencephalopathy-with-brainstem-and-spinal-cord-involvement-but-no-lactate-elevation
#8
Keiko Shimojima, Takafumi Higashiguchi, Kanako Kishimoto, Satoko Miyatake, Noriko Miyake, Jun-Ichi Takanashi, Naomichi Matsumoto, Toshiyuki Yamamoto
The mitochondrial aspartyl-tRNA synthetase 2 gene (DARS2) is responsible for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). A Japanese patient with LBSL showed compound heterozygous DARS2 mutations c.358_359delinsTC (p.Gly120Ser) and c.228-15C>G (splicing error). This provides further evidence that most patients with LBSL show compound heterozygous mutations in DARS2 in association with a common splicing mutation in the splicing acceptor site of intron 2.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29133739/mri-findings-in-methotrexate-induced-acute-toxic-leukoencephalopathy
#9
Ravi Kanth Jakkani, G Vamshi Krishna Reddy, Suryanarayana Anasuri, H Suvarna, M Sravan Kumar, Sandeep Satyanarayan
No abstract text is available yet for this article.
November 2017: Neurology India
https://www.readbyqxmd.com/read/29132903/progressive-multifocal-leukoencephalopathy-in-patients-receiving-rituximab-and-cyclophosphamide-after-haplo-identical-t-cell-replete-transplantation-and-review-of-the-literature
#10
REVIEW
R Salem, R Massoud, S S Kanj, M Hamdan, R Salman, A Bazarbachi, J El-Cheikh
John Cunningham virus (JCV) reactivation, occurring mainly in immunocompromised patients, leads to progressive multifocal leukoencephalopathy, an uncommon but lethal disease. JCV reactivation after T-cell replete haploidentical stem cell transplantation, in the pre-cyclophosphamide era, is poorly represented in the literature. We therefore describe two cases of acute myeloid leukemia who developed JCV reactivation after receiving cyclophosphamide and rituximab post haploidentical stem cell transplantation, and review the literature, aiming to a better understanding of the disease course and its risk factors...
November 10, 2017: Current Research in Translational Medicine
https://www.readbyqxmd.com/read/29127725/a-loss-of-function-homozygous-mutation-in-ddx59-implicates-a-conserved-dead-box-rna-helicase-in-nervous-system-development-and-function
#11
Vincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A Botia, Mina Ryten, Jana Vandrovcova, Oscar D Bello, Conceicao Bettencourt, Kshitij Mankad, Ashim Mukherjee, Mousumi Mutsuddi, Henry Houlden
We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with oro-facio-digital syndrome phenotype associated to a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and sub-cortical ischemic events. DDX59 encodes a DEAD-box RNA helicase and its role in brain function and neurological diseases is unclear. We showed a reduction of mutant cDNA and perturbation of SHH signalling from patient-derived cell lines; furthermore, analysis of human brain gene expression provides evidence that DDX59 is enriched in oligodendrocytes and might act within pathways of leukoencephalopathies associated genes...
November 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/29123152/neural-specific-deletion-of-mitochondrial-p32-c1qbp-leads-to-leukoencephalopathy-due-to-undifferentiated-oligodendrocyte-and-axon-degeneration
#12
Mikako Yagi, Takeshi Uchiumi, Noriaki Sagata, Daiki Setoyama, Rie Amamoto, Yuichi Matsushima, Dongchon Kang
Mitochondrial dysfunction is a critical step in the pathogenesis of many neurodegenerative diseases. The p32/ C1qbp gene functions as an essential RNA and protein chaperone in mitochondrial translation, and is indispensable for embryonic development. However, little is known about the consequences of mitochondrial dysfunction of p32 deletion in the brain development. Here, we found that mice lacking p32 in the central nervous system (p32cKO mice) showed white matter degeneration accompanied by progressive oligodendrocyte loss, axon degeneration and vacuolation in the mid brain and brain stem regions...
November 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29122458/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia-alsp-integrating-the-literature-on-hereditary-diffuse-leukoencephalopathy-with-spheroids-hdls-and-pigmentary-orthochromatic-leukodystrophy-pold
#13
REVIEW
Scott J Adams, Andrew Kirk, Roland N Auer
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder. ALSP was previously recognized as two distinct entities, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). However, recent identification of mutations in the tyrosine kinase domain of the colony stimulating factor 1 receptor (CSF1R) gene, which regulates mononuclear cell lineages including microglia, have provided genetic and mechanistic evidence that POLD and HDLS should be regarded as a single clinicopathologic entity...
November 6, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29120065/biallelic-mutations-in-mitochondrial-tryptophanyl-trna-synthetase-cause-levodopa-rresponsive-infantile-onset-parkinsonism
#14
E A Burke, S J Frucht, K Thompson, L A Wolfe, T Yokoyama, M Bertoni, Y Huang, M Sincan, D R Adams, R W Taylor, W A Gahl, C Toro, M C V Malicdan
Mitochondrial aminoacyl-tRNA synthetases (mtARSs) are essential, ubiquitously expressed enzymes that covalently attach amino acids to their corresponding tRNA molecules during translation of mitochondrial genes. Deleterious variants in the mtARS genes cause a diverse array of phenotypes, many of which involve the nervous system. Moreover, distinct mutations in mtARSs often cause different clinical manifestations. Recently, the gene encoding mitochondrial tryptophanyl tRNA synthetase (WARS2) was reported to cause two different neurological phenotypes, a form of autosomal recessive intellectual disability and a syndrome of severe infantile-onset leukoencephalopathy...
November 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29120025/prevention-and-therapy-of-jc-polyomavirus-mediated-progressive-multifocal-leukoencephalopathy-a-realistic-possibility
#15
Ivan Jelcic, Benoit Combaluzier, Ilijas Jelcic, Mireia Sospedra, Jan Grimm, Roland Martin
Progressive multifocal leukoencephalopathy (PML) is a serious opportunistic infection of the brain caused by the JC polyomavirus (JCPyV). PML occurs when immune control of persistent infection with JCPyV fails, the virus mutates and changes its cellular tropism, enters the brain and infects astrocytes, oligodendrocytes and, in particular cases, also neurones. Currently, there is no therapy for this often fatal disease. A number of approaches have failed, and only the restoration of protective immunity, if possible, can lead to clearance of the virus once PML has occurred...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29119538/safety-and-effectiveness-of-natalizumab-first-report-of-interim-results-of-post-marketing-surveillance-in-japan
#16
Takahiko Saida, Kazumasa Yokoyama, Ryusuke Sato, Haruki Makioka, Yukihiko Iizuka, Masakazu Hase, Yan Ling, Shinichi Torii
INTRODUCTION: Natalizumab, a humanized anti-α4 integrin monoclonal antibody, received marketing approval in Japan in 2014 for the treatment of multiple sclerosis (MS). Because the previous large-scale clinical trials of natalizumab were mainly conducted in Europe and North American countries, and data in patients with MS from Japan were limited, we conducted an all-case post-marketing surveillance of natalizumab-treated MS patients from Japan to investigate the safety and effectiveness of natalizumab in a real-world clinical setting in Japan...
November 8, 2017: Neurology and Therapy
https://www.readbyqxmd.com/read/29114091/circulating-endothelial-markers-in-retinal-vasculopathy-with-cerebral-leukoencephalopathy-and-systemic-manifestations
#17
Nadine Pelzer, Roel Bijkerk, Marlies E J Reinders, Anton Jan van Zonneveld, Michel D Ferrari, Arn M J M van den Maagdenberg, Jeroen Eikenboom, Gisela M Terwindt
BACKGROUND AND PURPOSE-: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a monogenic small vessel disease, caused by C-terminal truncating TREX1 mutations, that can be considered a model for stroke and vascular dementia. The pathophysiology of RVCL-S is largely unknown, but systemic endothelial involvement has been suggested, leading to pathology in the brain and other highly vascularized organs. Here, we investigated circulating endothelial markers to confirm endothelial involvement and identify biomarkers for disease activity...
November 7, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29093565/effect-of-blood-pressure-on-reversible-posterior-leukoencephalopathy-syndrome-in-pre-eclampsia-or-eclampsia
#18
Fang Xiaobo, Liang Yanling, Chen Dunjin, He Fang, Chen Jia, Zhong Yuhua, Zhang Weixi
Reversible posterior leukoencephalopathy syndrome (RPLS) is a critical maternal complication in some pre-eclampsia (PE) and nearly all eclampsia patients; RPLS is associated with high blood pressure (BP). However, the effect of BP on RPLS and the different characteristics of RPLS in PE or eclampsia are largely unknown. We consecutively collected data from 69 patients who were diagnosed with RPLS in PE or eclampsia between 2013 and 2017. The BP and biochemical indicators at onset and post onset of RPLS were examined to explore their likely correlation with RPLS...
November 2, 2017: Hypertension Research: Official Journal of the Japanese Society of Hypertension
https://www.readbyqxmd.com/read/29091757/infectious-entry-and-neutralization-of-pathogenic-jc-polyomaviruses
#19
Eileen M Geoghegan, Diana V Pastrana, Rachel M Schowalter, Upasana Ray, Wei Gao, Mitchell Ho, Gary T Pauly, Dina M Sigano, Campbell Kaynor, Ellen Cahir-McFarland, Benoit Combaluzier, Jan Grimm, Christopher B Buck
Progressive multifocal leukoencephalopathy (PML) is a lethal brain disease caused by uncontrolled replication of JC polyomavirus (JCV). JCV strains recovered from the brains of PML patients carry mutations that prevent the engagement of sialylated glycans, which are thought to serve as receptors for the infectious entry of wild-type JCV. In this report, we show that non-sialylated glycosaminoglycans (GAGs) can serve as alternative attachment receptors for the infectious entry of both wild-type and PML mutant JCV strains...
October 31, 2017: Cell Reports
https://www.readbyqxmd.com/read/29089674/serial-brain-mri-findings-in-a-rare-survivor-of-rabies-encephalitis
#20
Akhilesh Rao, Yayati Pimpalwar, Arindam Mukherjee, Neha Yadu
Rabies is a neurotropic viral illness, almost always fatal, that is equally dreaded by healthcare practitioners and patients due to the dismal prognosis and limited treatment options once symptoms set in. There are hardly any reports on MRI changes in the brain in survivors of rabies encephalitis. We present the clinical course and the imaging findings on serial MRI examinations in a rare patient who survived rabies infection. Initial brain MRI done 8 days after onset of symptoms revealed bilaterally symmetrical non-enhancing areas of T1 and T2 hyperintensity in the basal ganglia, thalami, mid brain, and pons along with T2 hyperintensity and restricted diffusion in fronto-parietal cortical grey matter and left hippocampus...
July 2017: Indian Journal of Radiology & Imaging
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