Title: Metachromatic leukodystrophy: consequences of sulphatide accumulation
Authors: Gieselmann, V ×
Franken, S
Klein, D
Mansson, JE
Sandhoff, R
Rauch, RL
Hartmann, Dieter
Saravanan, VPM
De Deyn, PP
D'Hooge, Rudi
Van der Linden, AM
Schaeren-Wiemers, N #
Issue Date: Dec-2003
Publisher: Scandinavian University Press
Series Title: Acta Paediatrica vol:92 pages:74-79
Abstract: Metachromatic leukodystrophy is a lysosomal lipid storage disorder. It is caused by mutations in the gene for arylsulphatase A, an enzyme involved in the degradation of the sphingolipid 3'-O-sulphogalactosylceramide (sulphatide). This membrane lipid can be found in various cell types, but in particularly high concentrations in the myelin of the nervous system. Patients suffer from progressive, finally lethal, demyelination due to accumulation of sulphatide. In the nervous system, lipid storage not only affects oligodendrocytes but also neurons and, in addition, leads to astrogliosis and activation of microglia. At the cellular level, lysosomal sulphatide storage also affects the lipid composition of myelin itself and has consequences for the amount and localization of particular myelin membrane-associated proteins. Here we review data, largely based on an arylsulphatase A knock-out mouse model of metachromatic leukodystrophy. CONCLUSION: The knock-out mouse model of metachromatic leukodystrophy has provided insights into the histopathological and cellular consequences of sulphatide storage.
ISSN: 0803-5253
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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