title: Elevated levels of dolichol in the brains of mucopolysaccharidosis and related disorders.
abstract: The contents of total dolichol were measured in the cerebral cortex of various patients with lysosomal storage disorders, including mucopolysaccharidosis. Strikingly high levels of dolichol were demonstrated in GM1-gangliosides, Sanfilippo B syndrome, and a severe type of Hunter syndrome as well as neuronal ceroid-lipofuscinosis. An increased level of dolichol in cerebral cortex in neuronal ceroid-lipofuscinosis (NCL) was once regarded as pathognomonic for NCL. Our data, however, suggest that an increased level of dolichol in cerebral cortex is a nonspecific phenomenon related to some lysosomal dysfunction secondary to various neurodegenerative disorders.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Sakakihara
authors.forename: T
authors.initials: T
authors.lastname: Imabayashi
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Kamoshita
mesh_terms: D000293:Adolescent; D000328:Adult; D000375:Aging / Q000378:metabolism; D001923:Brain Chemistry / Q000502:physiology*; D002540:Cerebral Cortex / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004286:Dolichols / Q000378:metabolism*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000378:metabolism; D009083:Mucopolysaccharidoses / Q000378:metabolism*; D011247:Pregnancy
chemical_list: D004286:Dolichols