Summary
The white matter in 4 cases of\({\text{G}}_{{\text{M}}_{\text{2}} } \) gangliosidosis was studied with particular regard to the question of a primary versus secondary character of myelin alteration. Histopathologically, the cases were characterized by extremely severe and extensive myelin deficiency in cases 1 and 2, very severe in case 3, and mild in case 1. The characteristic myelin lipid alteration was an 80–85% decrease in cerebrosides in cases 1, 2 and 3, and a 50% decrease in case 4. These findings are considered to be the results of more than one process. It is postulated that arrested myelinogenesis played a chief role in the pathomechanism of white matter involvement and secondary myelin degeneration was a contributory factor. The failure in myelin development is attributed to interference with cerebroside synthesis in the „vulnerable” period of brain development. Neuronal degeneration, on the other hand, in this particular period may promote the secondary degeneration of the already deposited but metabolically still unstable myelin. A relationship was suggested between myelin lipid, as indicated by the cerebroside content, and axonal and/or glial constituents, as indicated by the glycoproteins and glycosaminoglycans.
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Haberland, C., Brunngraber, E., Witting, L. et al. The white matter in\({\text{G}}_{{\text{M}}_{\text{2}} } \) gangliosidosis. Acta Neuropathol 24, 43–55 (1973). https://doi.org/10.1007/BF00691417
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DOI: https://doi.org/10.1007/BF00691417