Department of Neurology, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
Mov Disord. 2010 Mar 15;25(4):452-8. doi: 10.1002/mds.22979.
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.
脑腱黄瘤病（CTX）中帕金森病罕见。目前尚无使用（99m）Tc-[2-[[2-[[[3-(4-氯苯基）-8-甲基-8-氮杂双环[3.2.1]辛-2-基]甲基]（2-巯基乙基）氨基]乙基]氨基]乙硫醇ato(3-)-N2，N2，S2，S2]氧-[1R-（外消旋外消旋）]（（99m）Tc-TRODAT-1）SPECT 成像在 CTX 患者中的研究。本报告介绍了五例经基因证实的 CTX 患者（2 例伴帕金森病，3 例不伴帕金森病）的临床详细资料。还显示了使用颅磁共振成像（MR）和（99m）Tc-TRODAT-1 SPECT 的成像结果。对神经影像学发现与临床表现进行了临床相关性分析。还对英语文献中报道的 8 例伴帕金森病的 CTX 患者的临床和神经影像学特征进行了文献复习。我们的 2 例病例和其他 8 例报道的病例的帕金森病特征发生在 50 岁之前。MR 成像研究显示了不同的发现，除了 CTX 中常见的弥漫性脑和小脑白质病变外，还观察到几个局灶性脑病变。在局灶性病变中，只有 2 例伴帕金森病的患者出现黑质异常。（99m）Tc-TRODAT-1 SPECT 研究显示，在视觉和半定量评估中，纹状体结合在单侧或双侧均有不同程度的异常。帕金森病可能是 CTX 的神经表现之一。尽管我们的 2 例伴帕金森病的 CTX 患者均检测到黑质异常，但基底节病变在报道的伴帕金森病的 CTX 患者的 MR 成像结果中并未得到一致描述。（99m）Tc-TRODAT-1 SPECT 研究可用于检测纹状体受累，研究结果还提示 CTX 伴帕金森病患者的多巴胺神经元节前受累。
