title: Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings.
abstract: Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using (99m)Tc-[2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo [3,2,1] oct-2-yl] methyl] (2-mercaptoethyl) amino] ethyl] amino]-ethanethiolato(3-)-N2,N2,S2,S2]oxo-[1R-(exo-exo)] ((99m)Tc-TRODAT-1) SPECT in CTX patients. This report is on the clinical details of five genetically-proven CTX patients (two with and three without parkinsonism). Imaging findings using cranial magnetic resonance (MR) imaging and (99m)Tc-TRODAT-1 SPECT are also shown. Clinical correlation of neuroimaging findings and clinical presentations was made. A literature review of the clinical and neuroimaging features of eight CTX patients with parkinsonism reported in the English literature is also presented. The parkinsonian features of our two cases and the other eight reported cases occurred before the age of 50 years. The MR imaging study showed variable findings, in which, besides the common diffuse cerebral and cerebellar white matter lesions shown in CTX, several focal brain lesions were also noted. Of the focal lesions, substantia nigra abnormalities were seen only in the two cases with parkinsonism. The (99m)Tc-TRODAT-1 SPECT study showed different degrees of unilateral or bilateral abnormalities in the striatal binding in both visual and semiquantitative assessments. parkinsonism can be one of the neurologic presentations of CTX. Even though abnormal findings of the substantia nigra were detected in both of our CTX patients with parkinsonism, basal ganglion lesions have not been uniformly described in MR imaging findings of reported CTX patients with parkinsonism. (99m)Tc-TRODAT-1 SPECT study can be of value in the detection of striatal involvement, and the study results also suggest pre-synaptic dopamine neuron involvement in CTX patients with parkinsonism.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
authors.forename: Chen-San
authors.initials: CS
authors.lastname: Su
authors.forename: Wen-Neng
authors.initials: WN
authors.lastname: Chang
authors.forename: Shu-Hua
authors.initials: SH
authors.lastname: Huang
authors.forename: Chun-Chung
authors.initials: CC
authors.lastname: Lui
authors.forename: Tai-Long
authors.initials: TL
authors.lastname: Pan
authors.forename: Chen-Hsien
authors.initials: CH
authors.lastname: Lu
authors.forename: Yao-Chung
authors.initials: YC
authors.lastname: Chuang
authors.forename: Chi-Ren
authors.initials: CR
authors.lastname: Huang
authors.forename: Nei-Wen
authors.initials: NW
authors.lastname: Tsai
authors.forename: Mei-Jen
authors.initials: MJ
authors.lastname: Hsieh
authors.forename: Chiung-Chih
authors.initials: CC
authors.lastname: Chang
mesh_terms: D000328:Adult; D001921:Brain / Q000098:blood supply* / Q000473:pathology*; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D015609:Organotechnetium Compounds; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000453:epidemiology*; D017354:Point Mutation / Q000235:genetics; D019275:Radiopharmaceuticals; D012720:Severity of Illness Index; D015899:Tomography, Emission-Computed, Single-Photon; D014326:Tropanes; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000453:epidemiology*
chemical_list: D015609:Organotechnetium Compounds; D019275:Radiopharmaceuticals; D014326:Tropanes; C104196:technetium Tc 99m TRODAT-1; D053493:Cholestanetriol 26-Monooxygenase