Sanfilippo A syndrome (Mucopolysaccharidosis III A): a neurochemical study

Federico, Antonio; Robert, Jacques; Jp, Zanetta; Gc, Guazzi

doi:10.1007/bf02335431

Ital J Neuro Sci

1981

DOI: 10.1007/bf02335431

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Sanfilippo A syndrome (Mucopolysaccharidosis III A): a neurochemical study

Antonio Federico

Jacques Robert

Zanetta Jp³

et al.

Abstract: A post-mortem study of the brain neurochemistry of a patient with Sanfilippo A syndrome or mucopolysaccharidosis III A is reported. The main findings were: increased glycosaminoglycans, changes in the electrophoretic profile of the water-soluble and membrane-bound proteins, altered concentrations of glycoproteins, lipids and gangliosides and altered lysosomal enzyme activities. The relationship between these complex changes and the specific heparansulfate sulfatase deficiency is discussed.

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1982

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Cited by 3 publications

References 30 publications

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Sanfilippo B syndrome (MPS III B): Case report with analysis of CSF mucopolysaccharides and conjunctival biopsy

Federico

Capece²,

Cecio³

et al. 1981

J Neurol

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A case of a child with Sanfilippo B syndrome (MPS III B), born of a consanguineous marriage, is reported. Urinary mucopolysaccharide analysis showed an abnormal excretion mainly of heparan sulphate. N-acetyl-a-glucosaminidase activity was absent in the patient but was present in the heterozygous range in parents and siblings. CSF mucopolysaccharides were also abnormally high. In fibrocytes from conjunctival biopsy and CSF cells numerous vacuoles containing storage material were found. The presence of vacuoles in fibrocytes from conjunctival biopsy and/or in CSF cells can be useful in the diagnosis of many suspected lysosomal storage disorders.

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Sanfilippo B syndrome (MPS III B): Case report with analysis of CSF mucopolysaccharides and conjunctival biopsy

Federico

Capece²,

Cecio³

et al. 1981

J Neurol

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Anderson-Fabry's disease: Neuropathological and neurochemical investigation

et al. 1982

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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.

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Glycosaminoglycans (GASs) in human cerebral tumors

et al. 1982

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Sanfilippo A syndrome (Mucopolysaccharidosis III A): a neurochemical study

Cited by 3 publications

References 30 publications

Sanfilippo B syndrome (MPS III B): Case report with analysis of CSF mucopolysaccharides and conjunctival biopsy

Sanfilippo B syndrome (MPS III B): Case report with analysis of CSF mucopolysaccharides and conjunctival biopsy

Anderson-Fabry's disease: Neuropathological and neurochemical investigation

Glycosaminoglycans (GASs) in human cerebral tumors

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