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Paediatric neurodegenerative diseases are frequently caused by inborn errors in glycosphingolipid (GSL) catabolism and are collectively termed the glycosphingolipidoses. GSL catabolism occurs in the lysosome and a defect in an enzyme involved in GSL degradation leads to the lysosomal storage of its substrate(s). GSLs are abundantly expressed in the central nervous system (CNS) and the disorders frequently have a progressive neurodegenerative course. Our understanding of pathogenesis in these diseases is incomplete and currently few options exist for therapy. In this review we discuss how mouse models of these disorders are providing insights into pathogenesis and also leading to progress in evaluating experimental therapies.

Type

Journal article

Journal

Neuropathol Appl Neurobiol

Publication Date

10/2002

Volume

28

Pages

343 - 357

Keywords

1-Deoxynojirimycin, Animals, Bone Marrow Transplantation, Chemotherapy, Adjuvant, Disease Models, Animal, G(M2) Ganglioside, Gangliosides, Glucosylceramides, Glucosyltransferases, Glycosphingolipids, Humans, Lysosomal Storage Diseases, Lysosomes, Mice, Models, Biological, Models, Chemical, Morpholines, Sandhoff Disease, Tay-Sachs Disease, Treatment Outcome