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Pathology of the neurovascular unit in leukodystrophies
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 +2 more sources
Imaging of adult leukodystrophies [PDF]
Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults.
Claudia Costa Leite +5 more
doaj +2 more sources
Emerging cellular themes in leukodystrophies [PDF]
Leukodystrophies are a broad spectrum of neurological disorders that are characterized primarily by deficiencies in myelin formation. Clinical manifestations of leukodystrophies usually appear during childhood and common symptoms include lack of motor ...
Joseph C. Nowacki +2 more
doaj +2 more sources
The neurovascular unit in leukodystrophies: towards solving the puzzle [PDF]
The neurovascular unit (NVU) is a highly organized multicellular system localized in the brain, formed by neuronal, glial (astrocytes, oligodendrocytes, and microglia) and vascular (endothelial cells and pericytes) cells.
Parand Zarekiani +4 more
doaj +2 more sources
The term “leukodystrophies” refers to a group of genetic diseases characterized by degeneration of white matter in the central nervous system. Depending on the type of leukodystrophy, the phenotype can range from early infantile-onset, rapid, progressive forms to adult-onset slowly progressive variants. The understanding, definition, and classification
Ulrike Schrifl +2 more
core +3 more sources
Proton MR Spectroscopy in leukodystrophies [PDF]
Objective: To analyze MR Spectroscopic findings and metabolite ratios in regions of abnormal signal in children with leukodystrophies. Methods: This prospective study was carried out on twenty-six children (17 males and 9 females); median age, 36 months ±
Eman Muhammad Abdelsalam +3 more
doaj +2 more sources
Update on leukodystrophies and developing trials [PDF]
Leukodystrophies are a heterogeneous group of rare genetic disorders primarily affecting the white matter of the central nervous system. These conditions can present a diagnostic challenge, requiring a comprehensive approach that combines clinical ...
Hartley, Louise +13 more
core +3 more sources
Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy. [PDF]
Abstract Aim To describe the use of the Pediatric Evaluation of Disability Index‐Computer Adapted Test (PEDI‐CAT), a parent‐reported outcome, and determine functional performance in a cohort with leukodystrophy. Method This was a cross‐sectional observational study.
Cusack SV +9 more
europepmc +2 more sources
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
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

