نتایج جستجو برای: metachromatic leukodystrophy
تعداد نتایج: 3076 فیلتر نتایج به سال:
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...
OBJECTIVE Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder due to deficient activity of arylsulfatase A (ASA) that causes accumulation of sulfatide and lysosulfatide. The disorder is associated with demyelination and axonal loss in the central and peripheral nervous systems. The late infantile form has an early-onset, rapidly progressive course with severe...
The human PSAP-precursor gene spans approximately 20 kb in length of the long arm of chromosome 10 and consists at least 15 exons. The size of exons range from 57 to 1200 bp and the size of the introns vary from 91 to more than 3800 bp in length. The PSAP gene can be cateogorized as a polycistronic gene. Further analysis of PSAP intronic positions has indicated that it may be evolved from an an...
Finding in Metachromatic Leukodystrophy Metachromatic leukodystrophy (MLD) is a set of several disorders caused by deficient lysosomal activity. This deficiency results in accumulation of a metachromatic lipid material, galactosylceramide sulfatide, leading to the breakdown of the myelin sheath in both central and peripheral nervous systems, initially sparing the subcortical “U” fibers. Several...
Evoked potentials were studied in 22 children with leukodystrophy [10 metachromatic leukodystrophy (MLD), 4 Pelizaeus-Merzbacher (PM), 3 Krabbes, 2 adrenoleukodystrophy (ALD), and one each of Alexander's, Canavan's and multiple sulphatase deficiency (MSD) diseases]. The ABRs were abnormal in all patients (except for the younger ALD), but varied with the type of leukodystrophy. The PM and Krabbe...
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