Gangliosidosis: A Brief Review Of Associated Neuropathology

Feb 3rd, 2012
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The clinical progression of Tay-Sachs disease extends over a period of a few years. At birth, affected infants appear normal. The earliest symptoms of the disease begin at 3- 5 months of age. These symptoms include mild motor weakness and exaggerated response to auditory stimuli, or hyperacusis. The most characteristic feature of TSD is a cherry- red spot on the macula of the eye. The spot is the result of ganglioside accumulation in the retinal ganglion cells and is present as early as age 3 months. Although these red spots are round in other cases, such as retinal ischemia and Niemann- Picks disease, it’s presence in a Jewish infant is highly suggestive of Tay-Sachs.

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