Results 1 to 10 of about 818 (145)
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
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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
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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
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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
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Annals of Clinical and Translational Neurology, 2023 Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter.
Murtadha Al‐Saady +13 more
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Case report: ‘AARS2 leukodystrophy’
Molecular Genetics and Metabolism Reports, 2021 Background: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults.
Tobias Melton Axelsen +5 more
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Seminars in Neurology, 2016 Leukodystrophies are heritable disorders primarily affecting the white matter of the central nervous system. They are clinically characterized by spasticity, optic atrophy, and ataxia. These are a heterogeneous group of disorders, including hypomyelinating disorders and demyelinating disorders due to abnormal accumulations.
Knaap, M., Wolf, N., Heine, V.M.
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Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy
Frontiers in Physiology, 2020 BackgroundMyelopathy is the core clinical manifestation of adrenoleukodystrophy (ALD), which is the most common peroxisomal disorder. Development of therapies requires sensitive and clinically relevant outcome measures. Together with spastic paraparesis,
Wouter J. C. van Ballegoij +8 more
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Biomedicines, 2022 Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3)
Antonino Musumeci +11 more
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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
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