Genetic connections between neurological disorders and cholesterol metabolism

Ingemar Björkhem, Valerio Leoni, Steve Meaney

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)2489-2503
Number of pages15
JournalJournal of Lipid Research
Issue number9
Publication statusPublished - Sep 2010


  • Alzheimer's disease
  • Cholesterol/metabolism
  • Cholesterol/trafficking
  • Lipoproteins/assembly
  • Nuclear receptors
  • Omega oxidation

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Endocrinology


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