title: Genetic connections between neurological disorders and cholesterol metabolism.
abstract: Cholesterol is an essential component of both the peripheral and central nervous systems of mammals. Over the last decade, evidence has accumulated that disturbances in cholesterol metabolism are associated with the development of various neurological conditions. In addition to genetically defined defects in cholesterol synthesis, which will be covered in another review in this Thematic Series, defects in cholesterol metabolism (cerebrotendinous xanthomatosis) and intracellular transport (Niemann Pick Syndrome) lead to neurological disease. A subform of hereditary spastic paresis (type SPG5) and Huntington's disease are neurological diseases with mutations in genes that are of importance for cholesterol metabolism. Neurodegeneration is generally associated with disturbances in cholesterol metabolism, and presence of the E4 isoform of the cholesterol transporter apolipoprotein E as well as hypercholesterolemia are important risk factors for development of Alzheimer's disease. In the present review, we discuss the links between genetic disturbances in cholesterol metabolism and the above neurological disorders.
authors.affiliation: Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Huddinge, Sweden. ingemar.bjorkhem@karolinska.se
authors.forename: Ingemar
authors.initials: I
authors.lastname: Björkhem
authors.forename: Valerio
authors.initials: V
authors.lastname: Leoni
authors.forename: Steve
authors.initials: S
authors.lastname: Meaney
mesh_terms: D000818:Animals; D001057:Apolipoproteins E / Q000235:genetics / Q000378:metabolism; D002784:Cholesterol / Q000737:chemistry / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006801:Humans; D015394:Molecular Structure; D009420:Nervous System / Q000378:metabolism; D009422:Nervous System Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism
chemical_list: D001057:Apolipoproteins E; D020033:Protein Isoforms; D002784:Cholesterol
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