Results 21 to 30 of about 818 (145)
Frontiers in Cellular Neuroscience, 2022 Hematopoietic stem cells have been investigated and applied for the treatment of certain neurological disorders for a long time. Currently, their therapeutic potential is harnessed in autologous and allogeneic hematopoietic stem cell transplantation ...
Pedro de Vasconcelos +2 more
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HDAC-6 inhibition ameliorates the early neuropathology in a mouse model of Krabbe disease
Frontiers in Molecular Neuroscience, 2023 IntroductionIn Krabbe disease (KD), mutations in β-galactosylceramidase (GALC), a lysosomal enzyme responsible for the catabolism of galactolipids, leads to the accumulation of its substrates galactocerebroside and psychosine.
Sandra O. Braz +8 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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Metachromatic leukodystrophy associated with choledochal cysts and gallbladder papillomatosis
Journal of Pediatric Surgery Case Reports, 2019 Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A which is responsible for the desulfation of cerebroside sulfate, a myelin glycolipid.
Raed Al-Taher +4 more
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Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
Frontiers in Neurology, 2023 Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age ...
Karthik Muthusamy +9 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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Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature
Case Reports in Endocrinology, 2015 Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. Case Presentation.
Emma Billington +3 more
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Human Glial Progenitor Cells Effectively Remyelinate the Demyelinated Adult Brain
Cell Reports, 2020 Summary: Neonatally transplanted human glial progenitor cells (hGPCs) can myelinate the brains of myelin-deficient shiverer mice, rescuing their phenotype and survival.
Martha S. Windrem +8 more
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Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy
Frontiers in Neurology, 2021 RNA polymerase III (POLR3)-related leukodystrophy is an autosomal recessive form of leukodystrophy caused by homozygous or compound heterozygous mutations of the RNA polymerase III subunit genes, including subunit A (POLR3A).
Soma Furukawa +14 more
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Brain and Behavior, 2019 Introduction Leukodystrophy is a group of hereditary leukoencephalopathies predominantly affecting the white matter. Multiple genes and mutations have been reported to be associated with this disorder.
Jian‐Yong Wang +5 more
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