Results 21 to 30 of about 1,799 (195)

Progressive multifocal leukoencephalopathy [PDF]

Tidsskrift for Den norske legeforening, 2017
Progressive multifocal leukoencephalopathy is a rare, opportunistic infection of the central nervous system caused by the John Cunningham virus (JCV). There is no effective antiviral treatment available, and restoring immunocompetence is essential for survival. If this occurs too quickly, however, the inflammatory response may prove fatal.
Christine Hanssen Rinaldo, Kjell-Morten Myhr, Karl Bjørnar Alstadhaug   +2 more
openaire   +2 more sources

Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy

BMC Neurology, 2022
Background Missense mutations in the mitochondrial alanyl-tRNA synthetase 2 (AARS2) gene are clinically associated with infantile mitochondrial cardiomyopathy or adult-onset leukoencephalopathy with early ovarian failure.
Yan Fan, Jinming Han, Yanyan Yang, Tuanzhi Chen   +3 more
doaj   +1 more source

Transcriptomic atlas and interaction networks of brain cells in mouse CNS demyelination and remyelination

Cell Reports, 2023
Summary: Demyelination is a hallmark of multiple sclerosis, leukoencephalopathies, cerebral vasculopathies, and several neurodegenerative diseases. The cuprizone mouse model is widely used to simulate demyelination and remyelination occurring in these ...
Jinchao Hou, Yingyue Zhou, Zhangying Cai, Marina Terekhova, Amanda Swain, Prabhakar S. Andhey, Rafaela M. Guimaraes, Alina Ulezko Antonova, Tian Qiu, Sanja Sviben, Gregory Strout, James A.J. Fitzpatrick, Yun Chen, Susan Gilfillan, Do-Hyun Kim, Steven J. Van Dyken, Maxim N. Artyomov, Marco Colonna   +17 more
doaj   +1 more source

A fulminant case of JC virus encephalopathy supporting a novel syndrome associated with JC virus infection of cortical neurons [PDF]

Journal of Health and Social Sciences, 2016
The JC virus ( JCV) is well known for causing progressive multifocal leukoencephalopathy (PML), a potentially fatal, demyelinating disease of the central nervous system (CNS).
Matteo Ciocca, Marta Pirovano, Monica Lodi, Antonino Romeo, Vincenza Fetoni   +4 more
doaj   +1 more source

Progressive multifocal leukoencephalopathy [PDF]

Current Neurology and Neuroscience Reports, 2000
Progressive multifocal leukoencephalopathy (PML) was a rare disease until the advent of the HIV/AIDS pandemic. Recent interest in the disorder has been spurred by its appearance in patients treated with the monoclonal antibodies natalizumab and rituximab.
openaire   +5 more sources

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

International Journal of Neonatal Screening
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease.
Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Antonello, Filippo Arrigoni, Marina Balestriero, Barbara Borsani, Laura Cappelletti, Elisa Cattaneo, Matilde Ferrario, Giulia Fiore, Maria Iascone, Giana Izzo, Simona Lucchi, Cecilia Parazzini, Michela Perrone Donnorso, Luigina Spaccini, Ylenia Vaia, Pierangelo Veggiotti, Elvira Verduci, Gianvincenzo Zuccotti, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group   +23 more
doaj   +1 more source

Delayed Post-Hypoxic Leukoencephalopathy Induced by an Overdose with Fentanyl Patches: A Case Report

대한영상의학회지, 2020
Fentanyl intoxication has occasionally been reported since fentanyl patches became available for medical use. Delayed post-hypoxic leukoencephalopathy is a complication of hypoxia.
Jin Sol Choi, Eun Ae Yoo, Jin Ok Choi, Soo Jung Kim   +3 more
doaj   +1 more source

Posterior reversible encephalopathy syndrome (PRES): Another imaging manifestation of COVID-19

Interdisciplinary Neurosurgery, 2020
Neuroimaging manifestations of COVID-19 are being reported with increasing frequency with recent reports of associated atypical leukoencephalopathies. We add to this literature by describing a COVID-19 + patient who demonstrated imaging findings typical ...
Jeffrey Rogg, M.D., Amanda Baker, M.D., Glenn Tung, M.D.   +2 more
doaj   +1 more source

Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case Report [PDF]

Annals of Rehabilitation Medicine, 2019
Vanishing white matter (VWM) disease is an autosomal recessive disorder that affects the central nervous system of a patient, and is caused by the development of pathogenic mutations in any of the EIF2B1-5 genes.
Sung Eun Hyun, Byung Se Choi, Ja-Hyun Jang, Inpyo Jeon, Dae-Hyun Jang, Ju Seok Ryu   +5 more
doaj   +1 more source

Hypomyelinating Leukoencephalopathy

Sultan Qaboos University Medical Journal, 2013
NA
openaire   +3 more sources