Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction
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DOI: 10.1002/acn3.50975
Abstract: 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. This is the first study to… read more here.
Keywords: metachromatic leukodystrophy; transplantation remyelination; leukodystrophy transplantation; leukodystrophy ... See more keywords
Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study
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DOI: 10.1002/acn3.51254
Abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A (ASA), resulting in severe motor and cognitive dysfunction. This phase 1/2 study evaluated the safety and efficacy of… read more here.
Keywords: metachromatic leukodystrophy; phase study; arylsulfatase;
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.
Sign Up to like & getrecommendations! Published in 2023 at "Annals of clinical and translational neurology"
DOI: 10.1002/acn3.51796
Abstract: 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. Hematopoietic stem cell transplantation may stabilize and improve white… read more here.
Keywords: matter; stem cell; metachromatic leukodystrophy; transplantation ... See more keywords
Microglia damage precedes major myelin breakdown in X‐linked adrenoleukodystrophy and metachromatic leukodystrophy
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DOI: 10.1002/glia.23598
Abstract: X‐linked adrenoleukodystrophy (X‐ALD) and metachromatic leukodystrophy (MLD) are two relatively common examples of hereditary demyelinating diseases caused by a dysfunction of peroxisomal or lysosomal lipid degradation. In both conditions, accumulation of nondegraded lipids leads to… read more here.
Keywords: microglia; linked adrenoleukodystrophy; metachromatic leukodystrophy; damage ... See more keywords
Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-020-01643-3
Abstract: Metachromatic leukodystrophy(MLD) is an autosomal recessive hereditary neurodegenerative lysosomal storage disorder caused by the mutations in arylsulfatase A gene (ARSA), which results in the deficiency of ARSA enzyme. The common clinical characteristics of MLD are… read more here.
Keywords: chinese cases; metachromatic leukodystrophy; arsa gene; mld ... See more keywords
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100688
Abstract: Metachromatic leukodystrophy (MLD) is a glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ASA) or its activator protein saposin B. MLD can affect all age groups in severity varying from a… read more here.
Keywords: mld; analysis; asa activity; metachromatic leukodystrophy ... See more keywords
Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/a-2073-4178
Abstract: Abstract Background Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline. Brain magnetic resonance imaging (MRI) can detect affected white matter as T2 hyperintense… read more here.
Keywords: mld; diffusion; metachromatic leukodystrophy; diffusion tensor ... See more keywords
Hematopoietic stem cell transplantation with mesenchymal stromal cells in children with metachromatic leukodystrophy.
Sign Up to like & getrecommendations! Published in 2022 at "Stem cells and development"
DOI: 10.1089/scd.2021.0352
Abstract: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder primarily affecting the white matter of the nervous system that results from a deficiency of the arylsulfatase A (ARSA). Mesenchymal stem cells (MSCs) are able to secrete… read more here.
Keywords: cell; metachromatic leukodystrophy; mld patients; stem ... See more keywords
Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa277
Abstract: Enzyme replacement therapies, allogeneic bone marrow transplantation and gene therapies are treatment options for lysosomal storage diseases caused by inherited deficiencies of soluble lysosomal enzymes. Independent from the approach, the enzyme must be delivered to… read more here.
Keywords: cell; endocytosis arylsulfatase; metachromatic leukodystrophy; endocytosis ... See more keywords
A model of metformin mitochondrial metabolism in metachromatic leukodystrophy: first description of human Schwann cells transfected with CRISPR-Cas9
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DOI: 10.1098/rsob.210371
Abstract: Metachromatic leukodystrophy is a neurological lysosomal deposit disease that affects public health despite its low incidence in the population. Currently, few reports are available on pathophysiological events related to enzyme deficiencies and subsequent sulfatide accumulation.… read more here.
Keywords: human schwann; crispr cas9; schwann cells; metachromatic leukodystrophy ... See more keywords
An unusual presentation of gall bladder papillomatosis in association with metachromatic leukodystrophy
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DOI: 10.1136/bcr-2017-224162
Abstract: A 5-year-old boy with metachromatic leukodystrophy, debilitated by spastic quadriparesis presented to us with massive ascites and respiratory distress. A subtotal cholecystectomy was performed on him from another centre for a gall bladder mass a… read more here.
Keywords: metachromatic leukodystrophy; bladder; unusual presentation; gall bladder ... See more keywords