Results 1 to 10 of about 16,959 (263)
Annals of Clinical and Translational Neurology, 2023 Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter.
Murtadha Al‐Saady +13 more
doaj +2 more sources
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022 Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent,
Daphne H. Schoenmakers +7 more
semanticscholar +2 more sources
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
doaj +2 more sources
Anything is better than nothing’: exploring attitudes towards novel therapies in leukodystrophy clinical trials [PDF]
Orphanet Journal of Rare DiseasesBackground/Aim Leukodystrophies comprise a group of genetic white matter disorders that lead to progressive motor and cognitive impairment. Recent development of novel therapies has led to an increase in clinical trials for leukodystrophies.
Ella Wilson +5 more
doaj +2 more sources
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.
Sheri L. Wood, Jon S. Patterson
openalex +4 more sources
POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches
Frontiers in Cellular Neuroscience, 2021 Leukodystrophies are a class of rare inherited central nervous system (CNS) disorders that affect the white matter of the brain, typically leading to progressive neurodegeneration and early death. Hypomyelinating leukodystrophies are characterized by the
Stefanie Perrier +8 more
doaj +2 more sources
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.
James M. Powers, Ana Rubio
openalex +3 more sources
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
doaj +2 more sources
Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine [PDF]
BiomoleculesCell-based interception and precision medicine is a novel approach aimed at improving healthcare through the early detection and treatment of diseased cells.
Benoit Coulombe +8 more
doaj +2 more sources
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
Brain : a journal of neurology, 2022 Hypomyelinating leukodystrophies comprise a subclass of genetic disorders with deficient myelination of the central nervous system (CNS) white matter.
Michelle C. do Rosario +17 more
semanticscholar +1 more source