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Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy [PDF]
Brain, 2022 Metachromatic leukodystrophy is a lethal metabolic leukodystrophy, with emerging treatments for early disease stages. Biomarkers to measure disease activity are required for clinical assessment and treatment follow-up.
Shanice Beerepoot +2 more
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Metachromatic leukodystrophy: Disease spectrum and approaches for treatment
Best Practice and Research in Clinical Endocrinology and Metabolism, 2015 Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive mutations in ARSA encoding arylsulfatase A. Low activity of arylsulfatase A results in the accumulation of sulfatides in the central and peripheral nervous system leading
Diane F Van Rappard +2 more
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Metachromatic leukodystrophy: consequences of sulphatide accumulation
Acta Paediatrica, International Journal of Paediatrics, 2003 Metachromatic leukodystrophy is a lysosomal lipid storage disorder. It is caused by mutations in the gene for arylsulphatase A, an enzyme involved in the degradation of the sphingolipid 3'-O-sulphogalactosylceramide (sulphatide).
V Gieselmann, J E Mansson
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Metachromatic leukodystrophy: Diffusion MR imaging and proton MR spectroscopy
Acta Radiologica, 2003 Metachromatic leukodystrophy is characterized by dysmyelination caused by a deficiency of arylsulfatase-A. In a 17-month-old boy with metachromatic leukodystrophy, an echo-planar diffusion MR sequence revealed a restricted diffusion pattern in the deep ...
Sener, RN, Sener R.N.
exaly +2 more sources
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Acta Pathologica Japonica, 1988
Two sisters with juvenile metachromatic leukodystrophy are described. The patients were 17 and 20 years old. The younger sister died and an autopsy was perfomed. The elder sister keeps alive. A sural nerve biopsy of both cases revealed an accumulation of metachromatic lipid granules in the Schwann cells and macrophages. The autopsy also disclosed these
T, Satoh +5 more
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Two sisters with juvenile metachromatic leukodystrophy are described. The patients were 17 and 20 years old. The younger sister died and an autopsy was perfomed. The elder sister keeps alive. A sural nerve biopsy of both cases revealed an accumulation of metachromatic lipid granules in the Schwann cells and macrophages. The autopsy also disclosed these
T, Satoh +5 more
openaire +2 more sources
Neurological Research, 2009 Objective: Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A or saposin B.
Meral Topcu
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Clinical Genetics, 1973
Very low arylsulphatase A (ARA) activity was found directly in amniotic fluid from two pregnancies where cultured amniotic fluid cells as well as cultured fibroblasts from the aborted fetuses were deficient in ARA. These observations differed significantly from parallel determinations of ARA activity in amniotic fluid, cultured amniotic fluid cells and
Anne‐Lise Børresen +1 more
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Very low arylsulphatase A (ARA) activity was found directly in amniotic fluid from two pregnancies where cultured amniotic fluid cells as well as cultured fibroblasts from the aborted fetuses were deficient in ARA. These observations differed significantly from parallel determinations of ARA activity in amniotic fluid, cultured amniotic fluid cells and
Anne‐Lise Børresen +1 more
openaire +1 more source
Archives of Neurology, 1975
• A variant of metachromatic leukodystrophy (MLD), Austin disease, is characterized by a multiple isozyme deficiency of arylsulfatase. A 31/2-year-old girl with progressive mental and physical deterioration had decreased activities of arylsulfatases A and B in the leukocytes, shown by acrylamide gel electrophoresis.
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• A variant of metachromatic leukodystrophy (MLD), Austin disease, is characterized by a multiple isozyme deficiency of arylsulfatase. A 31/2-year-old girl with progressive mental and physical deterioration had decreased activities of arylsulfatases A and B in the leukocytes, shown by acrylamide gel electrophoresis.
openaire +1 more source
Kanani S, Raviraj D: Metachromatic leukodystrophy, 2023
Kanani, Shivan, Raviraj, Divya
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Kanani, Shivan, Raviraj, Divya
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