Results 1 to 10 of about 13,979 (223)
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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Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy [PDF]
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
doaj +3 more sources
Frontiers in Pediatrics, 2021 Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common.
Brahim Tabarki +2 more
exaly +3 more sources
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report [PDF]
JIMD ReportsLeukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical
Jeremy Clark +6 more
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POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches
Frontiers in Cellular Neuroscience, 2021 Leukodystrophies are a class of rare inherited central nervous system (CNS) disorders that affect the white matter of the brain, typically leading to progressive neurodegeneration and early death. Hypomyelinating leukodystrophies are characterized by the
Ma Michell-Robinson +2 more
exaly +3 more sources
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
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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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
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
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.
openaire +4 more sources