Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
Dotti
M T
MT
Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena, Italy.
Federico
A
A
Garuti
R
R
Calandra
S
S
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*
D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase