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Scientific Reports, 2021 This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh +6 more
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Frontiers in Genetics, 2022 Background: Leukodystrophies constitute a heterogeneous group of inherited disorders primarily affecting the white matter of the central nervous system. Aminoacyl-tRNA synthetases (ARSs) catalyze the attachment of an amino acids to their cognate transfer
Mahta Mazaheri +11 more
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Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications [PDF]
Clin Case RepABSTRACT Leukodystrophies are rare inherited neurodegenerative disorders characterized by progressive white matter dysfunction and neurological decline. In low‐resource settings, limited access to advanced neuroimaging, biochemical investigations, and genetic testing often delays diagnosis and complicates differentiation from more common infectious ...
Nkenguye W, Suleman M, Lodhia J.
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Leukodystrophies with Intracranial Calcifications [PDF]
, 2014 How to Cite This Article: Mahvelati Shamsabadi F. Leukodystrophies with Intracranial Calcifications. Iran J Child Neurol.
MAHVELATI SHAMSABADI, Farhad
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Leukodystrophies: clinical and therapeutic aspects [PDF]
, 2008 This chapter reviews that leukodystrophies is a genetic diseases that occur in early childhood. It is a possibility that leads to screening for leukodystrophy patients with early-onset dementia of unknown origin or atypical psychiatric symptoms.
F. Letournel, F. Dubas
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Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies
Cell Transplantation, 2013 Leukodystrophies are a group of disorders characterized by myelin dysfunction, either at the level of myelin formation or maintenance, that affect the central nervous system (CNS) and also in some cases, to a lesser extent, the peripheral nervous system (
Catarina Oliveira Miranda +3 more
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Frontiers in Genetics, 2022 Leukodystrophies are a group of heterogeneous disorders affecting brain myelin. Among those, childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM) is one of the more common inherited leukodystrophies.
Parith Wongkittichote +3 more
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Seminars in Pediatric Neurology, 1995 The clinicopathologic profiles of the major leukodystrophies (adreno-leukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy or Krabbe's disease, Pelizaeus-Merzbacher disease, and spongy degeneration of infancy or Canavan's disease) are reviewed.
J M, Powers, A, Rubio
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Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair
Frontiers in Cellular Neuroscience, 2021 In recent years, the scientific and therapeutic fields for rare, genetic central nervous system (CNS) diseases such as leukodystrophies, or white matter disorders, have expanded significantly in part due to technological advancements in cellular and ...
Anoushka Lotun +7 more
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, 2019 Leukodystrophies are genetically determined disorders affecting the white matter of the central nervous system. The combination of MRI pattern recognition and next-generation sequencing for the definition of novel disease entities has recently demonstrated that many leukodystrophies are due to the primary involvement and/or mutations in genes ...
Jorge, M. S., Bugiani, Marianna
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