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Handbook of Clinical Neurology / Edited By P J Vinken and G W BruynLeukodystrophies 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 ...
Elly M Hol +2 more
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Diagnosis, prognosis, and treatment of leukodystrophies
Lancet Neurology, The, 2019 Leukodystrophies comprise a large group of rare genetic disorders primarily affecting CNS white matter. Historically, the diagnostic process was slow and patient prognosis regarded as poor because curative treatment was only available for very few ...
Marjo van der Knaap +2 more
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Neuroglial Pathophysiology of Leukodystrophies
Advances in NeurobiologyLeukodystrophies are a diverse group of inherited diseases characterised by white matter degenerative pathology. Leukodystrophies have a highly heterogeneous genetic background linked mainly to mutations in oligodendrocyte and astrocyte genes and, to ...
Arthur Butt, Chenju Yi, Jianqin Niu
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Nature Reviews Neurology, 2018
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood.
Adeline Vanderver, Julian Curiel
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The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood.
Adeline Vanderver, Julian Curiel
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Continuum, 2022
This article reviews the most common leukodystrophies and is focused on diagnosis, clinical features, and emerging therapeutic options.In the past decade, the recognition of leukodystrophies has exponentially increased, and now this class includes more than 30 distinct disorders. Classically recognized as progressive and fatal disorders affecting young
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This article reviews the most common leukodystrophies and is focused on diagnosis, clinical features, and emerging therapeutic options.In the past decade, the recognition of leukodystrophies has exponentially increased, and now this class includes more than 30 distinct disorders. Classically recognized as progressive and fatal disorders affecting young
openaire +2 more sources
Topics in Magnetic Resonance Imaging, 2006
The leukodystrophies comprise an ever-expanding group of rare central nervous system disorders with defined clinical, pathological, and genetic characteristics. The broader term, leukoencephalopathy, is applied to all brain white matter diseases, whether their molecular cause is known.
Gilles, Lyon +2 more
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The leukodystrophies comprise an ever-expanding group of rare central nervous system disorders with defined clinical, pathological, and genetic characteristics. The broader term, leukoencephalopathy, is applied to all brain white matter diseases, whether their molecular cause is known.
Gilles, Lyon +2 more
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2012
Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and ...
Seth J, Perlman, Soe, Mar
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Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and ...
Seth J, Perlman, Soe, Mar
openaire +3 more sources
The latest on leukodystrophies
Current Opinion in Neurology, 2004Important advances in our understanding of genetic disorders of the white matter have been made and are discussed here.It has recently been discovered that mutations in the genes encoding the five subunits of eukaryocytic initiation factor 2B (eIF2B) are the cause of vanishing white-matter disease/childhood ataxia with central hypomyelination syndrome.
Raphael, Schiffmann +1 more
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Continuum, 2018
The leukodystrophies, typically considered incurable neurodegenerative disorders, are often diagnosed after irreversible central and peripheral nervous system injury has occurred. Early recognition of these disorders is imperative to enable potential therapeutic interventions. This article provides a summary of the symptoms of and diagnostic evaluation
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The leukodystrophies, typically considered incurable neurodegenerative disorders, are often diagnosed after irreversible central and peripheral nervous system injury has occurred. Early recognition of these disorders is imperative to enable potential therapeutic interventions. This article provides a summary of the symptoms of and diagnostic evaluation
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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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