Results 1 to 10 of about 24,301 (201)

Extensive Leukoencephalopathy in Spastic Paraplegia Type 4: Possible Role of Cerebral Autosomal Arteriopathy With Subcortical Infarcts and Leukoencephelopathy [PDF]

Journal of Movement Disorders, 2022
Despite recent advances in next-generation sequencing, the underlying etiology of adult-onset leukoencephalopathy has been difficult to elucidate. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a ...
Jin Ho Jung, Jung Hwa Seo, Sukyoon Lee, Young Jin Heo, Donghyun Kim, Eun Joo Chung, Seong-il Oh   +6 more
doaj   +1 more source

Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab

Frontiers in Neurology, 2023
Leukoencephalopathy with Calcifications and Cysts (LCC) is a rare genetic microangiopathy exclusively affecting the central nervous system caused by biallelic mutations in SNORD118.
Elena Scaffei, Elena Scaffei, Bianca Buchignani, Rosa Pasquariello, Paola Cristofani, Raffaello Canapicchi, Laura Biagi, Flavio Giordano, Flavio Giordano, Emanuela De Marco, Yanick J. Crow, Yanick J. Crow, Roberta Battini, Roberta Battini   +13 more
doaj   +1 more source

Labrune Syndrome: A Very Rare Association of Leukoencephalopathy, Cerebral Calcifications, and Cysts

Indian Journal of Radiology and Imaging, 2021
Leukoencephalopathy, cerebral calcifications, and cysts (LCC) form a very rare association which is named as “Labrune syndrome” after Labrune who reported the first case in 1996.
Anagha R. Joshi, Kiran Kulkarni, Ankita U. Shah   +2 more
doaj   +1 more source

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations

Molecular Genetics & Genomic Medicine, 2023
Objective Roberts syndrome (RBS), also known as Roberts‐SC phocomelia syndrome, is a rare autosomal recessive developmental disorder caused by mutations in the ESCO2 gene.
Shuang He, Shuai Chen, Shu‐Jian Li, Jie‐Wen Zhang, Xin‐Liang Liang   +4 more
doaj   +1 more source

The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates De Novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation

Medicines, 2021
Background: Genetic hypomyelinating diseases are a heterogeneous group of disorders involving the white matter. One infantile hypomyelinating leukoencephalopathy is associated with the homozygous variant (Cys4-to-Ser (C4S)) of the c11orf73 gene. Methods:
Kohei Hattori, Kenji Tago, Shiori Memezawa, Arisa Ochiai, Sui Sawaguchi, Yukino Kato, Takanari Sato, Kazuma Tomizuka, Hiroaki Ooizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchi   +12 more
doaj   +1 more source

Multifactorial White Matter Damage in the Acute Phase and Pre-Existing Conditions May Drive Cognitive Dysfunction after SARS-CoV-2 Infection: Neuropathology-Based Evidence

Viruses, 2023
Background: There is an urgent need to better understand the mechanisms underlying acute and long-term neurological symptoms after COVID-19. Neuropathological studies can contribute to a better understanding of some of these mechanisms.
Ellen Gelpi, Sigrid Klotz, Miriam Beyerle, Sven Wischnewski, Verena Harter, Harald Kirschner, Katharina Stolz, Christoph Reisinger, Elisabeth Lindeck-Pozza, Alexander Zoufaly, Marlene Leoni, Gregor Gorkiewicz, Martin Zacharias, Christine Haberler, Johannes Hainfellner, Adelheid Woehrer, Simon Hametner, Thomas Roetzer, Till Voigtländer, Gerda Ricken, Verena Endmayr, Carmen Haider, Judith Ludwig, Andrea Polt, Gloria Wilk, Susanne Schmid, Irene Erben, Anita Nguyen, Susanna Lang, Ingrid Simonitsch-Klupp, Christoph Kornauth, Maja Nackenhorst, Johannes Kläger, Renate Kain, Andreas Chott, Richard Wasicky, Robert Krause, Günter Weiss, Judith Löffler-Rag, Thomas Berger, Patrizia Moser, Afshin Soleiman, Martin Asslaber, Roland Sedivy, Nikolaus Klupp, Martin Klimpfinger, Daniele Risser, Herbert Budka, Lucas Schirmer, Anne-Katrin Pröbstel, Romana Höftberger   +50 more
doaj   +1 more source

Neurological and Neuroradiological Patterns with COVID-19 Infection in Children: A Single Institutional Study

Indian Journal of Radiology and Imaging, 2022
Background Varied neurological manifestations in pediatric patients with coronavirus disease 2019 (COVID-19) have been increasingly reported from all across the world in the scientific literature. Objective We aimed to evaluate pediatric cases
Sanchi Rastogi, Foram Gala, Shilpa Kulkarni, Vrushabh Gavali   +3 more
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Studying the evolution and the magnetic resonance findings of reversible posterior leukoencephalopathy in children Estudo da localização e evolução da leucoencefalopatia posterior reversível em crianças usando ressonância magnética

Arquivos de Neuro-Psiquiatria, 2006
PURPOSE: To describe the evolution and the magnetic resonance imaging (MRI) findings of the reversible posterior leukoencephalopathy (RLPS) in children.
José Roberto Ferraz-Filho, José Alves Rocha-Filho, Tatiana Fantin Bichuette, Regina Celia Ajeje P. de Albuquerque, Rafael Angelo Sanchez, Antonio Soares Souza   +5 more
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Leucoencefalopatia megalencefálica com substância branca evanescente e cistos subcorticais Megalencephalic leukoencephalopathy with vanishing white matter and cystic formation

Arquivos de Neuro-Psiquiatria, 2004
Apresentamos três casos de leucoencefalopatia megalencefálica com substancia branca evanescente e cistos subcorticais, diagnosticados através da ressonância nuclear magnética.Os casos estudados apresentam quadro clinico e radiológico de acordo com os ...
Hélio Araújo Oliveira, Marbene Guedes Machado, Alan Chester Feitosa de Jesus, Emanoella Faro de Oliveira, Arthur Maynart Pereira Oliveira   +4 more
doaj   +1 more source

Magnetic Resonance Imaging and Clinical Features of Chlorfenapyr-Induced Toxic Leukoencephalopathy: A Case Report

대한영상의학회지, 2020
Chlorfenapyr is widely used as an insecticide, despite it being fatal to humans. However, chlorfenapyr- induced central nervous system toxicity has rarely been reported.
Jong Hyuk Kim, Noh Hyuck Park, Ji Yeon Park, Seon-Jeong Kim   +3 more
doaj   +1 more source