Cerebrotendinous Xanthomatosis Patients With and Without Parkinsonism: Clinical Characteristics and Neuroimaging Findings Chen-San Su, MD, 1 Wen-Neng Chang, MD, 1 Shu-Hua Huang, MD, 2 Chun-Chung Lui, MD, 3 Tai-Long Pan, MD, PhD, 4 Chen-Hsien Lu, MD, 1 Yao-Chung Chuang, MD, PhD, 1 Chi-Ren Huang, MD, 1 Nei-Wen Tsai, MD, PhD, 1 Mei-Jen Hsieh, MD, 1 and Chiung-Chih Chang, MD 1 * 1 Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan 2 Department of Nuclear Medicine, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan 3 Department of Neuroradiology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan 4 School of Traditional Chinese Medicine, Chang Gung University, Tao-Yung, Taiwan Video 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 reso- nance (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 parkin- sonism. The 99m Tc-TRODAT-1 SPECT study showed differ- ent degrees of unilateral or bilateral abnormalities in the striatal binding in both visual and semiquantitative assess- ments. parkinsonism can be one of the neurologic presenta- tions of CTX. Even though abnormal findings of the substan- tia nigra were detected in both of our CTX patients with par- kinsonism, 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. Ó 2010 Movement Disorder Society Key words: cerebrotendinous xanthomatosis; parkinson- ism; MR imaging; 99 mTc-TRODAT-1 SPECT INTRODUCTION Cerebrotendinous xanthomatosis (CTX), a rare auto- somal recessive lipid storage disease with a wide clini- cal and molecular heterogeneity, is caused by a defi- ciency of the mitochondrial sterol 27-hydroxylase (CYP 27). 1–6 The genetic defect of CTX is the muta- tion in the CYP27 gene that maps to the q33-qter inter- val of human chromosome 2 [3,5,6]. The major clinical Additional Supporting Information may be found in the online version of this article. *Correspondence to: Chiung-Chih Chang, Department of Neurol- ogy, Chang Gung Memorial Hospital, 123, Ta-Pei RD., Niao-Sung Hsiang, Kaohsiung Hsien, Taiwan. E-mail: neur099@adm.cgmh.org.tw Potential conflict of interest: Nothing to report. Received 21 August 2009; Revised 23 November 2009; Accepted 26 November 2009 Published online 27 January 2010 in Wiley InterScience (www. interscience.wiley.com). DOI: 10.1002/mds.22979 452 Movement Disorders Vol. 25, No. 4, 2010, pp. 452–458 Ó 2010 Movement Disorder Society