[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism
[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism
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DOI：
10.1016/j.jns.2008.06.033
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发表时间：
2008-10-15
影响因子：
4.4
通讯作者：
Roze, Emmanuel
中科院分区：
文献类型：
--
作者：
Zanotti-Fregonara, Paolo;Vidailhet, Marie;Roze, Emmanuel
快速发作性肌张力障碍-帕金森综合征（RDP）是一种罕见的常染色体显性遗传综合征，其特征是肌张力障碍和帕金森症状的突然发作，持续数小时至数天。到目前为止，RDP已被描述在少数家庭，只有四个散发cases.Methods：我们在这里报告一个新的散发病例RDP谁有一个新的DE新的突变的ATP 1A 3基因。使用[I-123]-FP-CIT SPECT定量评估了纹状体多巴胺转运蛋白。在枕叶皮质内抽取感兴趣体积（VOI）以获得非特异性活性，并计算特异性与非特异性结合率（BR）。将在左右尾状核和壳核上绘制的预定义VOI 3D的单个模板应用于空间标准化的BR图像。将BR值与从年龄匹配的对照组和患有帕金森病的患者组（Hoehn和Yahr评分2或3）获得的BR值进行比较。结果：对照组左侧纹状体BR值（平均标准差）为3.5 ± 0.4，右侧为3.3 ± 0.3。RDP患者的值分别为3和2.7。在帕金森组中，数值分别为1.6 +/- 0.3和1.7 +/- 0.4。[Tc-99 m]-HMPAO扫描显示均匀的皮质和皮质下perfusion.Conclusion：定量的纹状体[I-123]-FP-CIT摄取在一个新的散发病例的RDP与一个新的突变在ATP 1A 3基因显示值只是在正常范围内。[Tc-99 m]-HMPAO扫描正常。(c)2008 Elsevier B. V.保留所有权利。
Rapid-onset dystonia-parkinsonism (RDP) is a rare, autosomal-dominantly inherited syndrome characterized by abrupt onset, over hours to days, of dystonic and parkinsonian symptoms. To date, RDP has been described in a small number of families, and in only four sporadic cases.Methods: We here report a new sporadic case of RDP who has a novel de novel mutation in the ATP1A3 gene. Striatal dopamine transporters have been assessed quantitatively using [I-123]-FP-CIT SPECT. A volume of interest (VOI) was drawn within the occipital cortex to obtain non-specific activity and specific to nonspecific binding ratios (BR) were calculated. A single template of predefined VOI 3D-drawn on right and left caudate nucleus and putamen was applied to the spatially normalized BR images. BR values were compared to those obtained from an age-matched control group and from a group of patients suffering from Parkinson's disease (Hoehn and Yahr score 2 or 3). A [Tc-99m]-HMPAO cerebral blood flow study was also performed.Results: In the control group, BR values (mean Standard Deviation) were 3.5 +/- 0.4 for the left striatum and 3.3 +/- 0.3 for the right one. RDP patient's values were 3 and 2.7, respectively. In the Parkinson group, values were 1.6 +/- 0.3 and 1.7 +/- 0.4, respectively. [Tc-99m]-HMPAO scan showed homogeneous cortical and sub-cortical perfusion.Conclusion: Quantification of striatal [I-123]-FP-CIT uptake in a new Sporadic case of RDP with a novel mutation in the ATP1A3 gene showed values just within the range of normality. [Tc-99m]-HMPAO scan was normal. (c) 2008 Elsevier B.V. All rights reserved.