PMID: 6278815Jan 1, 1982

Anderson-Fabry's disease: neuropathological and neurochemical investigation

Acta Neuropathologica
F TagliaviniA 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 glycolip...Continue Reading

References

Jan 1, 1977·European Neurology·A FedericoC Di Benedetta
Jul 16, 1975·Journal of Chromatography·J Robert, G Rebel
Jan 1, 1974·Acta Neuropathologica·T TabiraM Kikuchi
Apr 1, 1971·Clinica Chimica Acta; International Journal of Clinical Chemistry·E G BrunngraberH Hof
Apr 1, 1973·Archives of Neurology·M L Grunnet, P R Spilsbury
Jan 1, 1974·Journal of Neurochemistry·E G BrunngraberA Aro
Aug 1, 1972·Journal of Neurochemistry·T Miyatake, T Ariga
Jan 1, 1966·Acta Pathologica Et Microbiologica Scandinavica·E Jensen
Jan 1, 1966·Acta Pathologica Et Microbiologica Scandinavica·H O Lou
May 1, 1981·Italian Journal of Neurological Sciences·A FedericoG C Guazzi
Oct 1, 1962·Analytical Biochemistry·T BITTER, H M MUIR
Oct 1, 1963·Archives of Neurology·A N RAHMAN, R LINDENBERG

Citations

May 29, 2015·Journal of Magnetic Resonance Imaging : JMRI·Hunter R UnderhillC Ronald Scott
Feb 5, 2020·Journal of Neuropathology and Experimental Neurology·Kelly Del TrediciHeiko Braak
Jan 1, 1994·Acta Neuropathologica·M EllederK Harzer
Apr 16, 2008·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Riki Okeda, Masahiro Nisihara
Aug 1, 1987·Annals of Neurology·M Natowicz, R I Kelley
Jul 18, 2018·Frontiers in Molecular Neuroscience·Kai K KummerMichaela Kress

Related Concepts

Amygdaloid Structure
Fabry Disease
Claustral Structure
Blood Vessel
Brain
Nucleus Globosus
Insula of Reil
Galactosidase
Glycolipids
Lipid Metabolism, Inborn Errors

Related Feeds

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.

Amygdala: Sensory Processes

Amygdalae, nuclei clusters located in the temporal lobe of the brain, play a role in memory, emotional responses, and decision-making. Here is the latest research on sensory processes in the amygdala.

Amygdala and Midbrain Dopamine

The midbrain dopamine system is widely studied for its involvement in emotional and motivational behavior. Some of these neurons receive information from the amygdala and project throughout the cortex. When the circuit and transmission of dopamine is disrupted symptoms may present. Here is the latest research on the amygdala and midbrain dopamine.