Results 21 to 30 of about 10,122 (170)
Frontiers in Pediatrics, 2021 Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common.
Majid Alfadhel +42 more
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BMC Pediatrics, 2019 Background POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spasticity, ataxia, tremor, and ...
Shuiyan Wu +7 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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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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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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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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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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Shetland Sheepdog Leukodystrophy [PDF]
Journal of Veterinary Internal Medicine, 2001 Three litters of Shetland Sheepdog pups born to the same bitch and 2 different sires were studied because of uncontrollable seizures or progressive neurologic dysfunction. Four pups from the 1st litter, 1 from the 2nd litter, and 4 from the 3rd litter had severe diffuse spongy degeneration of the white matter of the brain and spinal cord.
S L, Wood, J S, Patterson
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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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