Results 11 to 20 of about 16,959 (263)
Brain and Behavior, 2023 Background Up to 80% of women with X‐linked adrenoleukodystrophy (X‐ALD) develop symptoms of myelopathy and peripheral neuropathy during their lifetime. The study's objective was to compare symptomatic versus asymptomatic women with X‐ALD regarding their
Lisa Schäfer +3 more
doaj +1 more source
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
Brain : a journal of neurology, 2021 Metachromatic leukodystrophy is a lethal metabolic leukodystrophy, with emerging treatments for early disease stages. Biomarkers to measure disease activity are required for clinical assessment and treatment follow-up.
Shanice Beerepoot +10 more
semanticscholar +1 more source
Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1
Annals of Clinical and Translational Neurology, 2022 Objective Vanishing white matter (VWM) is a leukodystrophy, characterized by stress‐sensitive neurological deterioration and premature death. It is currently without curative treatment. It is caused by bi‐allelic pathogenic variants in the genes encoding
Diede Witkamp +11 more
doaj +1 more source
Journal of Human Genetics, 2021 Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit of the brain-based on MRI. Here, we studied 20 patients with unexplained HLD to uncover their genetic etiology through whole-exome sequencing (WES ...
Huifang Yan +19 more
semanticscholar +1 more source
Seminars in Neurology, 2014 Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system myelin. Leukodystrophies have a reported incidence of 1 in 7500 live births, but fewer than half of patients receive a specific diagnosis.
Hannah B, Gordon +2 more
openaire +2 more sources
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023 Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram +11 more
wiley +1 more source
Pathology of the neurovascular unit in leukodystrophies
Acta Neuropathologica Communications, 2021 The blood–brain barrier is a dynamic endothelial cell barrier in the brain microvasculature that separates the blood from the brain parenchyma. Specialized brain endothelial cells, astrocytes, neurons, microglia and pericytes together compose the ...
Parand Zarekiani +5 more
doaj +1 more source
Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy
Glia, 2021 Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a lysosomal storage disorder causing extensive demyelination in the central and peripheral nervous systems.
M. Feltri +5 more
semanticscholar +1 more source
Quantitative MRI in leukodystrophies
NeuroImage: Clinical, 2023 Leukodystrophies constitute a large and heterogeneous group of genetic diseases primarily affecting the white matter of the central nervous system. Different disorders target different white matter structural components. Leukodystrophies are most often progressive and fatal.
Stellingwerff, Menno D +4 more
openaire +6 more sources
Optical coherence tomography to measure the progression of myelopathy in adrenoleukodystrophy
Annals of Clinical and Translational Neurology, 2021 Objective To prospectively determine the value of optical coherence tomography (OCT) as a surrogate outcome measure for the progression of myelopathy in males with adrenoleukodystrophy.
Wouter J. C. vanBallegoij +6 more
doaj +1 more source