Anderson-Fabry's disease: Neuropathological and neurochemical investigation View Full Text


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Article Info

DATE

1982-06

AUTHORS

F. Tagliavini, V. Pietrini, F. Gemignani, A. Lechi, A. Pallini, A. Federico

ABSTRACT

A clinical, neuropathological and neurochemical study of a case of Anderson-Fabry's disease is described. The clinical course mainly consisted of repeated ictus with major involvement of the CNS. The neuropathological examination is dominated by severe alterations in the cerebral vessels due to glycolipid deposits on the walls, with reduction or occlusion of the lumen. This is correlated with secondary ischaemic foci scattered throughout the cortex as well as through the white matter. In addition, the cells of the cerebral cortex, thalamus, basal ganglia, amygdala, cerebellar and olivary nuclei show a marked accumulation of lipofuscin. Biochemical examination reveals a threefold increase in galactolipids due to the specific alpha-galactosidase deficiency. Cholesterol is reduced secondarily to ischaemic myelin damage. Glycosaminoglycans uronic acid is increased in cytosol and membrane-bound fractions which could be related to reactive gliosis. Glycoprotein sugars show a decrease in N-acetyl-neuraminic acid and fucose as well as an increase in hexosamines and hexoses in membrane-bound fraction, while in cytosol fraction all sugars are increased. This suggests that the alpha-galactosidase deficiency can alter not only the glycolipid but also the glycoprotein metabolism, resulting in a higher presence of hexosamines and hexoses-rich glycoproteins. More... »

PAGES

93-98

References to SciGraph publications

  • 1973-06. Juvenile metachromatic leucodystrophy in ACTA NEUROPATHOLOGICA
  • 1981-12. Studies on glycoprotein metabolism in different types of sphingolipidosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1972. Neuropathology of Glycopeptides Derived from Brain Glycoproteins in GLYCOLIPIDS, GLYCOPROTEINS, AND MUCOPOLYSACCHARIDES OF THE NERVOUS SYSTEM
  • 1974-12. Neuropathological and biochemical studies in Fabry's disease in ACTA NEUROPATHOLOGICA
  • 1981-12. Storage of lipofuscin in neurons in mucopolysaccharidosis in ACTA NEUROPATHOLOGICA
  • 1981-06. Sanfilippo A syndrome (Mucopolysaccharidosis III A): a neurochemical study in NEUROLOGICAL SCIENCES
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/bf00690579

    DOI

    http://dx.doi.org/10.1007/bf00690579

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1000244830

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/6278815


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