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leukoencephalopathies

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https://www.readbyqxmd.com/read/28087821/selection-of-first-line-therapy-in-multiple-sclerosis-using-risk-benefit-decision-analysis
#1
David Bargiela, Matthew T Bianchi, M Brandon Westover, Lori B Chibnik, Brian C Healy, Philip L De Jager, Zongqi Xia
OBJECTIVE: To integrate long-term measures of disease-modifying drug efficacy and risk to guide selection of first-line treatment of multiple sclerosis. METHODS: We created a Markov decision model to evaluate disability worsening and progressive multifocal leukoencephalopathy (PML) risk in patients receiving natalizumab (NTZ), fingolimod (FGL), or glatiramer acetate (GA) over 30 years. Leveraging publicly available data, we integrated treatment utility, disability worsening, and risk of PML into quality-adjusted life-years (QALYs)...
January 13, 2017: Neurology
https://www.readbyqxmd.com/read/28072696/cerebroretinal-microangiopathy-with-calcifications-and-cysts-a-case-report
#2
Wenrui Xu, Jiuliang Zhao, Yicheng Zhu, Weihong Zhang
RATIONAL: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in multisystem organs. Its characteristic neurological disorders manifested on neuroimaging are a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. In this paper, we report a CRMCC patient with multisystem involvement, focusing on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28059798/sporadic-cases-with-novel-mutations-and-pedigree-in-hereditary-leukoencephalopathy-with-axonal-spheroids
#3
Liyong Wu, Jia Liu, Longze Sha, Xianling Wang, Jieying Li, Jing Dong, Jianping Jia
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant hereditary disease, featured by cerebral white matter degeneration with demyelination and axonal spheroids. We collected three gene-confirmed HDLS cases in our neurodegenerative clinic. Two HDLS cases were sporadic with novel mutations, while another case had a family history with previously described mutations. All three cases suffered memory problems with white matter lesions and pyramid signs. No obvious clinical differences were observed between sporadic and familial HDLS cases...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28058511/identification-and-functional-characterization-of-a-novel-mtfmt-mutation-associated-with-selective-vulnerability-of-the-visual-pathway-and-a-mild-neurological-phenotype
#4
Roberta La Piana, Woranontee Weraarpachai, Luis H Ospina, Martine Tetreault, Jacek Majewski, G Bruce Pike, Jean-Claude Decarie, Donatella Tampieri, Bernard Brais, Eric A Shoubridge
Mitochondrial protein synthesis is initiated by formylated tRNA-methionine, which requires the activity of MTFMT, a methionyl-tRNA formyltransferase. Mutations in MTFMT have been associated with Leigh syndrome, early-onset mitochondrial leukoencephalopathy, microcephaly, ataxia, and cardiomyopathy. We identified compound heterozygous MTFMT mutations in a patient with a mild neurological phenotype and late-onset progressive visual impairment. MRI studies documented a progressive and selective involvement of the retrochiasmatic visual pathway...
January 5, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28052269/observational-study-of-switching-from-natalizumab-to-immunomodulatory-drugs
#5
Ramón Villaverde-González, Julia Gracia Gil, Angel Pérez Sempere, Jorge Millán Pascual, José Marín Marín, María Carcelén Gadea, Laura Gabaldón Torres, Antonio Moreno Escribano, Antonio Candeliere Merlicco
OBJECTIVE: To determine the effect of disease-modifying drugs (DMDs) on disease activity rebound in patients discontinuing natalizumab (NTZ). METHODS: Twenty-one patients with relapsing-remitting multiple sclerosis (RRMS) treated with NTZ for ≥1 year and who switched to DMDs (glatiramer acetate [GA] or interferon) were followed up for 12 months in clinical practice. Clinical outcomes after NTZ cessation were assessed every 3 months for 1 year and MRI was performed at 12 months...
January 5, 2017: European Neurology
https://www.readbyqxmd.com/read/28041799/eif2b-related-multisystem-disorder-in-two-sisters-with-atypical-presentations
#6
Jin Sook Lee, Sangmoon Lee, Murim Choi, Byung Chan Lim, Jieun Choi, Ki Joong Kim, Jung-Eun Cheon, In-One Kim, Jong-Hee Chae
BACKGROUND: Vanishing white matter disease (VWM) is a chronic progressive leukoencephalopathy that is characterized by cerebellar ataxia and spasticity, together with cystic degeneration of the cerebral white matter as evidenced by brain magnetic resonance imaging (MRI). Here, we report two sisters with EIF2B2 variants, who presented with delayed development and failure to thrive before 1 year of age, developed cataracts, and showed diffuse leukoencephalopathy. CASE PRESENTATION: The index case had a history of hepatomegaly and intermittent vomiting after upper respiratory infection at 11 months of age...
July 18, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28036121/study-of-the-anti-jcv-antibody-levels-in-a-spanish-multiple-sclerosis-cohort
#7
María I Dominguez-Mozo, Macarena Rus, Jose L Santiago, Guillermo Izquierdo, Ignacio Casanova, Victoria Galan, M Angel Garcia-Martinez, Ana M Arias-Leal, Marta García-Montojo, Silvia Pérez-Pérez, Rafael Arroyo, Roberto Alvarez-Lafuente
One of the risk factor to develop progressive multifocal leukoencephalopathy (PML) among natalizumab-treated patients is the presence and high levels of anti-JCV antibodies. Our purpose was to test the association of different clinical and demographic variables with the presence and levels of anti-JCV antibodies in a Spanish cohort of multiple sclerosis (MS) patients during natalizumab treatment MATERIALS AND METHODS: All MS patients from two hospitals with at least one measure of the anti-JCV antibodies levels (2011-2014) were recruited, among them two PML cases...
December 30, 2016: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28034964/predictors-and-clinical-impact-of-incident-lacunes-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
#8
Yifeng Ling, François De Guio, Marco Duering, Eric Jouvent, Dominique Hervé, Ophélia Godin, Martin Dichgans, Hugues Chabriat
BACKGROUND AND PURPOSE: Previous studies in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy showed that accumulation of lacunes strongly relate to clinical severity. However, the potential predictors of incident lacunes and their clinical consequences over a short time frame have not been investigated. This study aimed to determine the predictors and clinical impact of such lesions in a large cohort of patients. METHODS: Two hundred and six NOTCH3 mutation carriers (mean age, 49...
December 29, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28028416/right-hemispheric-leukoencephalopathy-as-an-incidental-finding-following-a-lightning-strike
#9
Jera Kruja, Altin Kuqo, Serla Grabova, Arben Rroji, Gentian Vyshka
BACKGROUND: Lightning injuries may produce a variety of medical conditions, and specific neurological complications have been identified, with the character of immediate aftershock effects or even long-term consequences. AIM: The authors describe the incidental finding following a routine unenhanced brain MRI performed to a young female patient, suffering from a headache. CASE REPORT: Diffuse white matter changes with the character of a leukoencephalopathy were seen, which strictly interested only the right cerebral hemisphere...
December 15, 2016: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28025469/mr-spectroscopy-in-patients-with-hereditary-diffuse-leukoencephalopathy-with-spheroids-and-asymptomatic-carriers-of-colony-stimulating-factor-1-receptor-mutation
#10
Takashi Abe, Toshitaka Kawarai, Koji Fujita, Wataru Sako, Yuka Terasawa, Tsuyoshi Matsuda, Waka Sakai, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yuishin Izumi, Ryuji Kaji, Masafumi Harada
PURPOSE: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder with various clinical presentations. Mutation of the colony-stimulating factor 1 receptor (CSF1R) gene is considered to be a cause of this autosomal dominant disorder. The purpose of this study was to report magnetic resonance spectroscopy (MRS) findings in patients with HDLS and asymptomatic carriers and to clarify the use of MRS in this disease. MATERIALS AND METHODS: In this retrospective, institutional review board-approved study, we included four consecutive patients, genetically diagnosed with HDLS, and two asymptomatic carriers after acquiring informed consent...
December 26, 2016: Magnetic Resonance in Medical Sciences: MRMS
https://www.readbyqxmd.com/read/28017759/the-monro-kellie-doctrine-in-action-posterior-reversible-leukoencephalopathy-syndrome-pres-due-to-intracranial-hypotension-from-lumbo-peritoneal-shunt-placement
#11
Ioannis Karakis, Audrey H Nuccio, Jordan P Amadio, Arthur J Fountain
BACKGROUND: Posterior reversible leukoencephalopathy syndrome (PRES) is linked to various etiologies, foremost systemic hypertension. Its association with intracranial hypotension (IH), a potential sequela of various neurosurgical procedures, is under-recognized. We report a case of lumbo-peritoneal shunt induced IH resulting in PRES with the goal to increase awareness, and elaborate on the potential biological mechanism, based on the Monro-Kellie hypothesis. CASE DESCRIPTION: A 26-year-old woman with acquired immunodeficiency syndrome and epilepsy was admitted for recurrent cryptococcal meningitis and breakthrough seizures...
December 22, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/28007993/myelin-phagocytosis-by-astrocytes-after-myelin-damage-promotes-lesion-pathology
#12
Gerald Ponath, Sriram Ramanan, Mayyan Mubarak, William Housley, Seunghoon Lee, F Rezan Sahinkaya, Alexander Vortmeyer, Cedric S Raine, David Pitt
Astrocytes are key players in the pathology of multiple sclerosis and can assume beneficial and detrimental roles during lesion development. The triggers and timing of the different astroglial responses in acute lesions remain unclear. Astrocytes in acute multiple sclerosis lesions have been shown previously to contain myelin debris, although its significance has not been examined. We hypothesized that myelin phagocytosis by astrocytes is an early event during lesion formation and leads to astroglial immune responses...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28007986/phospholipase-a2-activating-protein-is-associated-with-a-novel-form-of-leukoencephalopathy
#13
Tzipora C Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, Thierry Vilboux, Eric C Fitts, Yishay Shoval, Limor Kalfon, Nadra Samra, Zohar Keren, Bella Gross, Natalia Chasnyk, Rachel Straussberg, James C Mullikin, Jamie K Teer, Dan Geiger, Daniel Kornitzer, Ora Bitterman-Deutsch, Abraham O Samson, Maki Wakamiya, Johnny W Peterson, Michelle L Kirtley, Iryna V Pinchuk, Wallace B Baze, William A Gahl, Robert Kleta, Yair Anikster, Ashok K Chopra
Leukoencephalopathies are a group of white matter disorders related to abnormal formation, maintenance, and turnover of myelin in the central nervous system. These disorders of the brain are categorized according to neuroradiological and pathophysiological criteria. Herein, we have identified a unique form of leukoencephalopathy in seven patients presenting at ages 2 to 4 months with progressive microcephaly, spastic quadriparesis, and global developmental delay. Clinical, metabolic, and imaging characterization of seven patients followed by homozygosity mapping and linkage analysis were performed...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28005037/-a-case-of-progressive-multifocal-leukoencephalopathy-in-a-hiv-infected-female-patient
#14
E A Samotolkina, A V Pokrovskaya, E S Samotolkina, S L Voznesensky, E V Petrova
Progressive multifocal leukoencephalopathy (PML) caused by JC virus is a severe central nervous lesion developing in the presence of obvious immunodeficiency. In most cases, the disease results in a fatal outcome within a few months. Antiretroviral therapy is currently considered to be the only method for the prevention and treatment of PML in HIV-infected patients. The paper describes a positive experience in treating the HIV-infected female patient with the established diagnosis of PML.
2016: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28004598/natalizumab-treatment-of-multiple-sclerosis-new-insights
#15
Serena Delbue, Manola Comar, Pasquale Ferrante
Natalizumab is a monoclonal antibody directed against the α4 chain of the very late activating antigen 4 and α4β7 integrins, present on the leukocytes surface, used as monotherapy for the treatment of relapsing-remitting multiple sclerosis. It substantially reduces relapse rate and the accumulation of disability, but its use is associated with a very adverse event, that is the development of progressive multifocal leukoencephalopathy, a fatal demyelinating disease of the CNS, due to the lytic replication of the human polyomavirus JC...
December 22, 2016: Immunotherapy
https://www.readbyqxmd.com/read/28002537/cerebral-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-in-acromegalic-patient-with-severe-headache
#16
LuminiŢa Nicoleta Cima, Simona Vasilica Fica, Alice Ioana Albu, Ioana Maria Lambrescu, Ioana SmărăndiŢa Lăcău, Bogdan Ovidiu Popescu, Mihaela Gherghiceanu, Corin Virgil Badiu, Carmen Gabriela Barbu
A 68-year-old female patient was admitted in our clinic with severe frontal bilateral headache, dizziness, depression and cognitive decline in the context of a previously diagnosed acromegaly. She also had high blood pressure, dyslipidemia, secondary diabetes mellitus. Acromegaly was caused by a growth hormone (GH) secreting-pituitary macroadenoma, so a transsphenoidal surgery was performed. The postoperative magnetic resonance imaging (MRI) scan revealed a 20÷22÷25 mm pituitary mass remnant and medical therapy with somatostatin analogues (SSAs) was started...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28001298/drug-induced-pml-in-multiple-sclerosis-european-regulators-perspective
#17
REVIEW
Ruxandra Anton, Manuel Haas, Peter Arlett, Martina Weise, Pavel Balabanov, Giampiero Mazzaglia, Luis Prieto, Brigitte Keller-Stanislawski, June Raine
Progressive multifocal leukoencephalopathy (PML) has been associated with the use of a number of multiple sclerosis (MS) immunomodulatory therapies and has assumed a critical place in the evaluation of their benefit/risk. In this review, we discuss the EU regulatory approach to drug-induced PML in MS, highlight a number of key issues related to the current knowledge on PML and outline possible paths to help progress the risk management of MS patients at risk of PML. This article is protected by copyright. All rights reserved...
December 21, 2016: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28000699/absence-of-hikeshi-a-nuclear-transporter-for-heat-shock-protein-hsp70-causes-infantile-hypomyelinating-leukoencephalopathy
#18
Catalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, Helena Pihko, Anu Suomalainen, Christopher J Carroll
Genetic leukoencephalopathies are a heterogeneous group of central nervous system disorders with white matter involvement. In a Finnish patient, we identified a novel homozygous disease-causing variant in HIKESHI, c.11G>C, p.(Cys4Ser), leading to hypomyelinating leukoencephalopathy with periventricular cysts and vermian atrophy. A founder Ashkenazi-Jewish disease-causing variant recently linked Hikeshi and its heat-shock protective function to leukoencephalopathy. In our patient, clinical features of lower limb spasticity, optic atrophy, nystagmus, and severe developmental delay were similar to reported patients...
December 21, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27997580/natalizumab-related-progressive-multifocal-leukoencephalopathy-in-multiple-sclerosis-findings-from-an-italian-independent-registry
#19
Luca Prosperini, Nicola de Rossi, Cristina Scarpazza, Lucia Moiola, Mirco Cosottini, Simonetta Gerevini, Ruggero Capra
BACKGROUND: The monoclonal antibody natalizumab (NTZ) is a highly effective treatment for patients with multiple sclerosis (MS). However, this drug is associated with increased risk of developing Progressive Multifocal Leukoencephalopathy (PML), an opportunistic infection of central nervous system (CNS) caused by the John Cunningham polyomavirus (JCV). OBJECTIVE: To describe the 12-month clinical course of 39 patients with MS (28 women, 11 men) who developed NTZ-related PML after a mean exposure of 39 infusions...
2016: PloS One
https://www.readbyqxmd.com/read/27994897/progressive-multifocal-leukoencephalopathy-in-a-multiple-sclerosis-patient-diagnosed-after-switching-from-natalizumab-to-fingolimod
#20
Tim Sinnecker, Jalal Othman, Marc Kühl, Imke Metz, Thoralf Niendorf, Annett Kunkel, Friedemann Paul, Jens Wuerfel, Juergen Faiss
Background. Natalizumab- (NTZ-) associated progressive multifocal leukoencephalopathy (PML) is a severe and often disabling infectious central nervous system disease that can become evident in multiple sclerosis (MS) patients after NTZ discontinuation. Recently, novel diagnostic biomarkers for the assessment of PML risk in NTZ treated MS patients such as the anti-JC virus antibody index have been reported, and the clinical relevance of milky-way lesions detectable by MRI has been discussed. Case Presentation and Conclusion...
2016: Case Reports in Neurological Medicine
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