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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Proton MR spectroscopy in three children with Tay-Sachs disease.

BACKGROUND: Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM(2) gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells. OBJECTIVE: To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease. MATERIALS AND METHODS: Three children aged 10, 20 and 21 months were examined. RESULTS: On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio. CONCLUSIONS: The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease.[1]


  1. Proton MR spectroscopy in three children with Tay-Sachs disease. Aydin, K., Bakir, B., Tatli, B., Terzibasioglu, E., Ozmen, M. Pediatric radiology. (2005) [Pubmed]
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