Metachromatic leukodystrophy
MR of childhood metachromatic leukodystrophy
... PURPOSE: To investigate the MR findings of childhood metachromatic leukodystrophy (MLD). METH- ODS: Nine MR imaging studies in seven children (five girls and two boys, 10 to 32 months old) with MLD were ...
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Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells
... Gene-based delivery can establish a sustained supply of therapeutic proteins within the nervous system. For diseases characterized by extensive CNS and peripheral nervous system (PNS) involvement, widespread dis- ...
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Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice
... Metachromatic leukodystrophy (MLD) is a demyelinating lysosomal storage disorder for which new treat- ments are urgently needed. We previously showed that transplantation of gene-corrected hematopoietic ...
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Metabolism of cerebroside sulfate and subcellular distribution of its metabolites in cultured skin fibroblasts from controls, metachromatic leukodystrophy, and globoid cell leukodystrophy
... With pulse-chase study of 1-[14C]stearic acid-labeled cerebroside sulfate (14C-CS) and subsequent subcellular fractionation by Percoll gradient, the metabolism of CS and translocation of its metabolites in human skin ...
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Original Article A novel ARSA gene mutation c.302delG in a Chinese patient with metachromatic leukodystrophy
... Abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder mainly caused by the arysulfatase A (ARSA) gene mutations, which results in ARSA activity deficient to ...
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Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia
... Results: The median age at disease onset was 1 year and 3 months with the first clinical symptom being gait disturbance. All five patients became bed-ridden at a median age of 2 years and 5 months. Nerve conduction ...
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Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
... Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase ...
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Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale
... outlined in the 2009 US Food and Drug Administration (FDA) patient-reported outcomes (PROs) guidance and expectations of European regulators [16, 17]. This study was conducted in accordance with the ethical principles ...
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Induction of Tolerance to Human Arylsulfatase A in a Mouse Model of Metachromatic Leukodystrophy
... causes metachromatic leukodystrophy (MLD), a lysosomal storage disorder character- ized by accumulation of sulfatide, a severe neurological phenotype and early ...
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Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
... Abstract: Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early ...
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Developing therapeutic approaches for metachromatic leukodystrophy
... Notes: The figure shows the biosynthetic pathways of sulfatide, the sphingolipid that accumulates during metachromatic leukodystrophy MLD. The specific enzymes described in each step of the pathway are in ...
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Diagnosis of Metachromatic Leukodystrophy, Krabbe Disease, and Farber Disease after Uptake of Fatty Acid labeled Cerebroside Sulfate into Cultured Skin Fibroblasts
... galactosylceramide, ceramide, and stearic acid, which was reutilized in the synthesis of the major lipids found in cultured fibroblasts. Uptake and metabolism of the [ 14 C]CS into cells from typical and atypical ...
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Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report
... (BMT Database). Those whose MLD diagnosis could be retrospectively confirmed were included for this analysis. MLD diagnosis was considered confirmed if (1) the pa- tient had low ARSA with elevated urine sulfatides (n = ...
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Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
... Figure 2 Kaplan – Meier plots show time after onset (months) when a) first language decline and b) complete loss of expressive language occurred in patients with the late-infantile form [r] ...
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Toward a Better Understanding of Brain Lesions during Metachromatic Leukodystrophy Evolution
... Certain limitations of this study should, however, be noted. Because the study is retrospective, there may be some variabil- ity in the MRI technique, though this might have been miti- gated, in part, by the use of a ...
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Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers
... The rate of functional decline was more rapid in patients with late-infantile MLD than those with juvenile MLD; the mean time from first symptom to first functional loss was 1 year versu[r] ...
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Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations
... We found that MLD has a fairly characteristic pattern that does not appear to differ among the late infantile, juvenile, and adult-onset groups. A sheet-like area of abnormal T2 signal- intensity hyperintensity initially ...
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METACHROMATIC LEUKODYSTROPHY: CLINICAL, HISTOCHEMICAL, AND CEREBROSPINAL FLUID ABNORMALITIES
... the deposition of metachromatic substances in ganglion cells, which compares to the abnormal lipid deposits seen in the retina of patients with Tay-Sach’s disease.2’.. Neuropathological [r] ...
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Phenotypic variation between siblings with Metachromatic Leukodystrophy
... Conclusions: In a systematic analysis of phenotypic variation in families with MLD, siblings with the late-infantile form showed a similar variability as unrelated pairs of children with[r] ...
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Mendelian adult onset leukodystrophy genes in Alzheimer´s disease Critical influence of CSF1R and NOTCH3
... vasculopathy, metachromatic leukodystrophy, hereditary diffuse leukoencephalopathy with spheroids, and vanishing white matter disease present with rapidly progressive dementia as dominant feature and are ...
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