title: PET analysis of a case of cerebrotendinous xanthomatosis presenting hemiparkinsonism.
abstract: We describe a 34-year-old Japanese woman presenting gait difficulty and Achilles tendon swelling. The patient was diagnosed as having cerebrotendinous xanthomatosis (CTX) based on the high serum cholestanol level and diminished enzymatic activity of 27-hydroxylase of fibroblasts from her skin. Her clinical presentation was atypical regarding the presence of hemiparkinsonism and absence of apparent cataract, dementia, and cerebellar ataxia. Although MRI studies could not detect any abnormality in the basal ganglia or midbrain, PET analysis using [18F]-6-fluoro-L-dopa revealed reduced uptake of dopamine into the putamen, suggesting the impairment of presynaptic dopaminergic neurons.
authors.affiliation: Department of Neurology, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kuwabara
authors.forename: S
authors.initials: S
authors.lastname: Hitoshi
authors.forename: N
authors.initials: N
authors.lastname: Nukina
authors.forename: K
authors.initials: K
authors.lastname: Ishii
authors.forename: T
authors.initials: T
authors.lastname: Momose
authors.forename: S
authors.initials: S
authors.lastname: Kubota
authors.forename: Y
authors.initials: Y
authors.lastname: Seyama
authors.forename: I
authors.initials: I
authors.lastname: Kanazawa
mesh_terms: D000328:Adult; D001479:Basal Ganglia / Q000473:pathology; D004298:Dopamine / Q000502:physiology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008636:Mesencephalon / Q000473:pathology; D009474:Neurons / Q000473:pathology*; D010302:Parkinson Disease, Secondary / Q000209:etiology*; D014055:Tomography, Emission-Computed; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000000981:diagnostic imaging*
chemical_list: D004298:Dopamine