Results 21 to 30 of about 23,690 (177)

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene

Анналы клинической и экспериментальной неврологии, 2017
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described familial form of ischemic stroke caused by mutations in the Notch3 gene on chromosome 19q12.
S. N. Illarioshkin, P. A. Slominsky, M. I. Shadrina, M. V. Partola, D. V. Kandyba, N. M. Zhulev   +5 more
doaj   +1 more source

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

Frontiers in Neurology, 2023
Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age ...
Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K. Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova   +9 more
doaj   +1 more source

Clinical and Radiological Characterization of Progressive Multifocal Leukoencephalopathy in HIV-Infected Patients: A Retrospective Analysis and Review of the Literature

Acta Médica Portuguesa, 2015
Introduction: Progressive multifocal leukoencephalopathy is a demyelinating disease of the central nervous system caused by John Cunningham virus, mostly associated with immunodeficiency conditions, such as the human immunodeficiency virus infection ...
Luís Augusto, Nélia Neves, Carina Reis, Cândida Abreu, António Sarmento   +4 more
doaj   +1 more source

Rare anoxic brain injury sequela of delayed posthypoxic leukoencephalopathy due to recreational drug overdose with benzodiazepines

Clinical Case Reports, 2020
A growth in recreational drug use will lead to a rise in delayed posthypoxic leukoencephalopathy cases. Physicians may inadvertently misdiagnose this rare condition as a primary psychiatric disorder by not maintaining a broad differential diagnosis.
Kara Kaplan, Ariful Alam, Braydon Dymm, Hisham Valiuddin, Sangeetha Nanthabalan   +4 more
doaj   +1 more source

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) on Magnetic Resonance Spectroscopy: A Clinical Observation

Анналы клинической и экспериментальной неврологии, 2020
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) on magnetic resonance spectroscopy is a rare and little-known form of hereditary leukoencephalopathy, a significant portion of which is probably obscured by the ...
Alexander Yu. Kazantsev, Tatiana V. Matveeva   +1 more
doaj   +1 more source

Hypomyelinating Leukoencephalopathy

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

Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies

Current Issues in Molecular Biology
Leukodystrophies represent a large and complex group of inherited disorders affecting the white matter of the central nervous system. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare leukodystrophy which still ...
Paulo de Lima Serrano, Thaiane de Paulo Varollo Rodrigues, Leslyê Donato Pinto, Indiara Correia Pereira, Igor Braga Farias, Renan Brandão Rambaldi Cavalheiro, Patrícia Marques Mendes, Kaliny Oliveira Peixoto, João Paulo Barile, Daniel Delgado Seneor, Eduardo Gleitzmann Correa Silva, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto, Paulo Sgobbi   +13 more
doaj   +1 more source

Diffusion-weighted magnetic resonance imaging in acute reversible toxic leukoencephalopathy: A report of two cases

Indian Journal of Radiology and Imaging, 2010
Acute toxic leukoencephalopathy may be caused by endogenous or exogenous toxins. It may reverse clinically if the offending agent is withdrawn or the underlying condition is treated.
S Sivasubramanian, Srikant Moorthy, KP Sreekumar, R Rajesh Kannan   +3 more
doaj   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source