Fabry disease: Immunocytochemical characterization of neuronal involvement
| Autor: | Edwin H. Kolodny, G A deVeber, Neil W. Kowall, G A Schwarting |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Adult
Central Nervous System Male Nervous system Pathology medicine.medical_specialty Central nervous system Amidines Biology Nucleus basalis medicine Humans Tissue Distribution Fluorescent Dyes Neurons Staining and Labeling Trihexosylceramides Antibodies Monoclonal Middle Aged Spinal cord Immunohistochemistry Microscopy Electron medicine.anatomical_structure Globus pallidus nervous system Neurology Cerebral cortex Peripheral nervous system Fabry Disease Neurology (clinical) Brainstem Glycolipids Neuroscience |
| Zdroj: | Annals of Neurology. 31:409-415 |
| ISSN: | 1531-8249 0364-5134 |
| DOI: | 10.1002/ana.410310410 |
| Popis: | Fabry disease is an X-linked glycosphingolipid storage disease caused by deficiency of alpha-galactosidase. Storage of globotriaosylceramide, also known as ceramide trihexoside, is maximal in blood vessels but also occurs in neurons. We performed neuropathological histochemical studies on the brains and spinal cords of 2 patients with confirmed Fabry disease. Luxol fast blue-positive deposits were found in blood vessels throughout the central and peripheral nervous system and within selected neurons in spinal cord and ganglia, brainstem, amygdala, hypothalamus, and entorhinal cortex. Regions adjacent to involved neuronal groups, including nucleus basalis, striatum, globus pallidus, and thalamus, were spared. Electron microscopy showed lamellar cytoplasmic neuronal inclusion bodies. Using a monoclonal antibody reactive with ceramide trihexoside, we found more extensive neuronal deposition than evident by Luxol-fast blue staining and new areas of neuronal storage in the spinal cord and cerebral cortex. Blood vessels throughout the nervous system were strongly immunoreactive. The highly selective pattern of neuronal involvement we found suggests that glycosphingolipid exposure, uptake, or catabolism varies greatly with respect to neuronal morphology and distribution. The degree of toxicity to neurons and the clinical significance of this neuronal storage remains to be defined. |
| Databáze: | OpenAIRE |
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