title: Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
authors.affiliation: Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena, Italy.
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: R
authors.initials: R
authors.lastname: Garuti
authors.forename: S
authors.initials: S
authors.lastname: Calandra
mesh_terms: D015139:Blotting, Southern; D053493:Cholestanetriol 26-Monooxygenase; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D020734:Parkinsonian Disorders / Q000201:enzymology / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D013250:Steroid Hydroxylases / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000201:enzymology / Q000235:genetics*
chemical_list: D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase