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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   +5 more sources

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy [PDF]

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   +4 more sources

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

Neurology International
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
Ruben Jauregui, Mekka R. Garcia, Thomas Mehuron, Steven L. Galetta, Devorah Segal   +4 more
doaj   +3 more sources

Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy

Journal of Central Nervous System Disease, 2013
Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD.
Mitra Assadi, Dah-Jyuu Wang, Yadira Velazquez-Rodriquez, Paola Leone   +3 more
doaj   +3 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   +2 more sources

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, Fareed Khdair Ahmad, Mohammad Rashdan, Ibrahim Khrais, Sahar Almustafa   +4 more
doaj   +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   +2 more sources

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   +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

Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study [PDF]

Molecular Genetics and Metabolism Reports
Metachromatic leukodystrophy is a rare autosomal recessive disease. There are three forms of this disease, all of which result in cognitive and motor dysfunctions.
Yuta Koto, Wakana Yamashita, Norio Sakai
doaj   +2 more sources