Results 1 to 10 of about 11,658 (188)

Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction [PDF]

Annals of Clinical and Translational Neurology, 2020
Objective In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration ...
Nicole I. Wolf, Marjolein Breur, Bonnie Plug, Shanice Beerepoot, Aimee S. R. Westerveld, Diane F. vanRappard, Sharon I. deVries, Maarten H. P. Kole, Adeline Vanderver, Marjo S. van derKnaap, Caroline A. Lindemans, Peter M. vanHasselt, Jaap J. Boelens, Ulrich Matzner, Volkmar Gieselmann, Marianna Bugiani   +15 more
doaj   +9 more sources

The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review. [PDF]

Eur J Med Res, 2023
Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system.
Chang SC, Eichinger CS, Field P.
europepmc   +3 more sources

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy

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, Shanice Beerepoot, Bonnie C. Plug, Marjolein Breur, Hristina Galabova, Petra J. W. Pouwels, Jaap‐Jan Boelens, Caroline Lindemans, Peter M. vanHasselt, Ulrich Matzner, Adeline Vanderver, Marianna Bugiani, Marjo S. van derKnaap, Nicole I. Wolf   +13 more
doaj   +2 more sources

Metachromatic Leukodystrophy

Pediatric Neurology Briefs, 1990
A ten year old girl with metachromatic leukodystrophy in whom neurophysiologic function and sulfatide metabolism had improved after she received a bone marrow transplant five years before is reported from the Bone Marrow Transplantation Program ...
J Gordon Millichap
doaj   +3 more sources

Metachromatic leukodystrophy

Muller Journal of Medical Sciences and Research, 2013
Metachromatic leukodystrophy or Scholz′s disease is a rare disorder transmitted as an autosomal recessive trait, leading to demyelination and neurological impairment.
Prima Cheryl D′souza, Archanaa Vignesh, K Subaschandra, P John Mathai   +3 more
doaj   +2 more sources

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

Frontiers in Medicine, 2020
Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems.
Alisa A. Shaimardanova, Daria S. Chulpanova, Daria S. Chulpanova, Valeriya V. Solovyeva, Valeriya V. Solovyeva, Aysilu I. Mullagulova, Kristina V. Kitaeva, Cinzia Allegrucci, Albert A. Rizvanov   +8 more
doaj   +2 more sources

Atidarsagene autotemcel for metachromatic leukodystrophy

Drugs of Today, 2023
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder of sphingolipid metabolism, due to a deficiency of the enzyme arylsulfatase A (ARSA). The main clinical signs of the disease are secondary to central and peripheral nervous system demyelination.
Messina, M, Gissen, P
openaire   +4 more sources

Metachromatic Leukodystrophy Presenting with Multiple Cranial Nerve and Lumbosacral Nerve Root Enhancement Without White Matter Changes. [PDF]

Neurol Int
Background: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder that causes demyelination of both the central (CNS) and peripheral nervous systems (PNS). Objective: This study aims to report a unique MLD case presenting with cranial
Jauregui R, Garcia MR, Mehuron T, Galetta SL, Segal D.   +4 more
europepmc   +2 more sources

Metachromatic Leukodystrophy Variants

Pediatric Neurology Briefs, 1993
Clinical, pathological, imaging, and genetic findings in a family with multiple allelic mutations of metachromatic leukodystrophy (MLD) are reported from McGill University, Montreal, and McMaster University, Hamilton, Canada.
J Gordon Millichap
doaj   +4 more sources

Lipidomic analysis identifies age-disease-related changes and potential new biomarkers in brain-derived extracellular vesicles from metachromatic leukodystrophy mice

Lipids in Health and Disease, 2022
Background Recent findings show that extracellular vesicle constituents can exert short- and long-range biological effects on neighboring cells in the brain, opening an exciting avenue for investigation in the field of neurodegenerative diseases ...
Melissa R. Pergande, Christina Kang, Diann George, Pearl A. Sutter, Stephen J. Crocker, Stephanie M. Cologna, Maria I. Givogri   +6 more
doaj   +2 more sources