The pathology of Sandhoff's disease

The Journal of Pathology
M G HadfieldR B David

Abstract

We have presented the morbid anatomy of a case of Sandhoff's disease and have attempted to outline morphologic differences which distinguish this entity from other GM2 gangliosidoses. Yet, it may be well to maintain a sceptical eye. The anatomic differences among Tay-Sachs disease and its variants are more quantitative than qualitative and are overshadowed by the similarities. For these reasons, a definitive diagnosis must rest with the biochemist. Nevertheless, if many bizarre MCB's are encountered, the enzyme defect may be expected to differ from that of classical Tay-Sachs disease and, when seen in endothelial cells, they favour Sandhoff's disease. More importantly, if prominent visceral storage is found, and especially if it extends beyond the reticuloendothelial system to involve such selective sites as the kidneys and pancreas, Sandhoff's disease should immediately come to mind. For the pathologist, it is this latter point which more readily sets apart Sandhoff's disease from related GM2 gangliosidoses.

References

Dec 19, 1975·Acta Neuropathologica·C M de BaecqueD L Whethers
Jun 1, 1974·Pediatric Research·M W SpenceJ A Tibbles
Sep 1, 1974·Beiträge Zur Pathologie·A TakahashiY Koizumi
Apr 1, 1971·Neurology·Y SuzukiK Suzuki
Aug 1, 1974·The Biochemical Journal·J L Stirling
Aug 9, 1974·Nature·M P Capdevila, A Garcia-Bellido
Oct 12, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y SuzukiY Ogawa
Jan 1, 1973·Humangenetik·H H Ropers, U Schwantes
Jul 1, 1974·The American Journal of Cardiology·L C BliedenH L Sharp
Dec 1, 1971·Journal of Neurochemistry·K SandhoffH Jatzkewitz

Citations

Oct 9, 2002·Neuropathology and Applied Neurobiology·M JeyakumarFrances M Platt
May 1, 1981·Acta Pathologica Japonica·M TatematsuT Ogiu
Jun 6, 2014·Nature·Frances M Platt

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