منابع مشابه
White matter changes in GM1 gangliosidosis.
BACKGROUND GM1 gangliosidosis is a disorder due to GLB1 gene mutation. CASE CHARACTERISTICS A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging. OUTCOME Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing. MESSAGE We highlight the white matter changes in late infantile GM1 gangliosidosis.
متن کاملWhite matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities.
PURPOSE To establish changes on MR of the brain in a feline model of Sandhoff disease in order to develop standards by which this model may be used in future noninvasive studies. METHODS Five affected felines and six age-matched, littermate controls were evaluated. T1- and T2-weighted images were obtained once or twice for each of four affected and five control animals at 4 1/2 to 12 weeks of...
متن کاملPathology of GM2 gangliosidosis in Jacob sheep.
The G(M2) gangliosidoses are a group of lysosomal storage diseases caused by defects in the genes coding for the enzyme hexosaminidase or the G(M2) activator protein. Four Jacob sheep from the same farm were examined over a 3-year period for a progressive neurologic disease. Two lambs were 6-month-old intact males and 2 were 8-month-old females. Clinical findings included ataxia in all 4 limbs,...
متن کاملBiochemical characterization of the GM2 gangliosidosis B1 variant.
The deficiency of the A isoenzyme of beta-hexosaminidase (Hex) produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease) has two variants with enzymological differences: the B variant consists of the absence of Hex A isoenzyme and the B1 variant produces an inactive Hex A isoenzyme for the hydrolysis of the GM2 ganglioside and synthetic substrates with neg...
متن کاملOcular pathology of GM2 gangliosidosis--Type 2 (Sandhoff's disease).
The introduction in recent years of more refined techniques for the isolation and characterization of biological lipids has led to the detection of a number of disorders which share with Tay-Sachs disease a disturbance of ganglioside metabolism. Gangliosides are sphingosine-containing glycolipids distinguished by the inclusion of neuraminic acid, and the various gangliosidoses are attributable ...
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ژورنال
عنوان ژورنال: Journal of Case Reports
سال: 2017
ISSN: 2231-6809
DOI: 10.17659/01.2017.0002