Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy
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چکیده
منابع مشابه
Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy
OBJECTIVE The aim of this study was to investigate whether the extent and topography of cerebral demyelination correlates with and predicts disease progression in patients with juvenile metachromatic leukodystrophy (MLD). METHODS A total of 137 MRIs of 46 patients with juvenile MLD were analyzed. Demyelination load and brain volume were quantified using the previously developed Software "clus...
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M leukodystrophy (MLD) is an autosomal recessive disorder, caused by deficiency of arylsulfatase A (cerebroside sulfatase A, ASA), which results in accumulation of sulfatides, mainly in the brain and peripheral nerves. The estimated frequency of MLD from previous reports is 1 in 40,000 cases. The deficiency in ASA activity is caused by mutations in the ASA gene. The deficiency is systemic and a...
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OBJECTIVE Metachromatic leukodystrophy (MLD) is an inherited lysosomal disorder due to a deficiency in arylsulfatase A with progressive demyelination and neurological decline. This retrospective MRI study investigated the extent of cortical involvement at time of diagnosis, and clinical correlates to both conventional and regional volumetric measures of brain involvement. METHODS 3D-T1-weight...
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ژورنال
عنوان ژورنال: Annals of Clinical and Translational Neurology
سال: 2017
ISSN: 2328-9503
DOI: 10.1002/acn3.420