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LEUKOENCEPHALOPATHIES AND LEUKODYSTROPHIES
Continuum, 2010The leukoencephalopathies encompass a heterogeneous group of disorders that involve the brain white matter. The cause may be acquired or inherited; in the latter case, mutations have been found in genes that encode protein components of the myelin membrane or enzymes implicated in the turnover of myelin. In patients with cognitive dysfunction and white
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Leukodystrophies are a heterogeneous group of rare genetic neurologic disorders characterized by white matter degeneration resulting from mutations affecting glial cells. This review focuses on the primary subtypes-astroglial, oligodendroglial, and microglial leukodystrophies-offering a detailed description of their neuropathologic features and ...
Hol, Elly M +6 more
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Hol, Elly M +6 more
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Krabbe's Leukodystrophy (Globoid Cell Leukodystrophy)
Archives of Neurology, 1970KRABBE'S leukodystrophy or globoid cell leukodystrophy (GLD) is a familial neurological disorder of early infancy characterized clinically by tonic seizures, generalized convulsions, spastic quadriplegia, cortical blindness or optic atrophy, deafness, pseudobulbar palsy, and a rapidly progressive course.
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Endocrinopathies in Leukodystrophy
Current Problems in Pediatric and Adolescent Health Care, 2023Vivian, Szymczuk, Nadia, Merchant
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Introduction to leukodystrophy
Current Problems in Pediatric and Adolescent Health Care, 2022Mi Ran, Shin, Kylie, Mortgart, Amy, May
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Introduction to leukodystrophy
Current Problems in Pediatric and Adolescent Health Care, 2023Mi Ran, Shin +3 more
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Peroxisomal disorders can be classified as single-enzyme deficiencies or peroxisomal biogenesis disorders (characterized by multiple peroxisomal enzyme deficiencies or complete absence of peroxisomes). Most peroxisomal disorders give rise to complex multisystem disorders. Peroxisomal disorders associated with leukodystrophy are discussed in more detail,
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2017
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
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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
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Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
Brain, 2022Shanice Beerepoot +2 more
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