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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
+5 more sources
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
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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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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.
Wolfgang, Köhler +2 more
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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.
Wolfgang, Köhler +2 more
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The Neurologist, 2009
The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate ...
Daniel J, Costello +2 more
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The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate ...
Daniel J, Costello +2 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
openaire +2 more sources