Summary
Pathological and biochemical studies were performed on a patient with Fabry's disease. Abnormal deposits in the nervous system were restricted mainly to neurons of the autonomic nervous system. Affected neurons were found in the supraoptic and paraventricular nuclei, the midline nucleus, substriatal grey, nucleus amygdalae, presubiculum of hippocampus, fifth and sixth cortical layers of the parahippocampus and inferior temporal gyrus, dorsal motor nucleus of the vagus, superior and inferior salivatory nuclei, Edinger-Westphal nucleus, reticular formation of the pons and medulla oblongata, trigeminal ganglia, non-pigmented cells of the substantia nigra, intermediolateral column, spinal dorsal root ganglia, sympathetic ganglia and the submucous and myenteric plexuses. Abnormal deposits were found also in the periventricular glial cells, perineurium, the endothelial and smooth muscle cells of blood vessels throughout the body, the heart, kidneys and reticuloendothelial cells of many organs. The histogram of the sural nerve showed a decrease in the smaller myelinated and unmyelinated fibers. The abnormal deposits were glycolipids, CTH and CDH. Although there were two distinct staining characteristics of the deposited material with Luxol fast blue and PAS in paraffin section, these differently stained deposits could not be differentiated by histochemical and biochemical studies.
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Tabira, T., Goto, I., Kuroiwa, Y. et al. Neuropathological and biochemical studies in Fabry's disease. Acta Neuropathol 30, 345–354 (1974). https://doi.org/10.1007/BF00697017
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DOI: https://doi.org/10.1007/BF00697017