metachromatic leukodystrophy: overveiw
نویسندگان
چکیده
how to cite this article: zamani gr. metachromatic leukodystrophy: overveiw. iran j child neurol autumn 2014;8:4 (suppl.1):5-6. pls see pdf.
منابع مشابه
MR of childhood metachromatic leukodystrophy.
PURPOSE To investigate the MR findings of childhood metachromatic leukodystrophy (MLD). METHODS Nine MR imaging studies in seven children (five girls and two boys, 10 to 32 months old) with MLD were evaluated retrospectively for the extent and progression of white matter abnormalities and the presence of contrast enhancement. RESULTS All seven cases showed symmetric, confluent high signal i...
متن کاملAdult-type metachromatic leukodystrophy mimicking multiple sclerosis.
recessive lysosomal storage disease caused by a deficiency of arylsulphatase A (ASA). It is characterized by accumulation of sulphatide in the white matter in the central nervous system and peripheral nerves1. The disease is divided in four subtypes, according to onset, severity and progression of the disease: late infantile (before age 4), early juvenile (age 4 to 6), late juvenile (age 6 to 1...
متن کاملMetachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects
Scholz’s disease or metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency in arylsulfatase A (ARSA: EC 3.1.6.8). This enzyme is responsible for the degradation of sulfatides commonly called cerebroside-3-sulfate or 3-O sulfogalactosylceramide in galactocerebroside and sulfate. The success of hydrolysis of these sphingolipids by ARSA necessarily depends on the ...
متن کاملMetachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.
UNLABELLED Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of arylsulphatase A (ASA). This leads to storage of the membrane lipid sulphatide, which is abundant in myelin. A pathological hallmark of the disease is demyelination, causing various and ultimately lethal neurological symptoms. Today more than 110 mutations in the ASA gene have been identified, of ...
متن کاملMulti-Voxel 1H-MRS in Metachromatic Leukodystrophy
Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD. The data revealed elevated myoinositol/creatine and lactate/creatine ratios as well as decreased N-acetyl aspartate/creatine ratios. We propos...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۸، شماره ۴، صفحات ۵-۶
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