Beukers R J, Booij J, Weisscher N, Zijlstra F, van Amelsvoort T A M J, Tijssen M A J
Department of Neurology, Academic Medical Centre, University of Amsterdam, P.O. Box 22660, 1100 DD, Amsterdam, The Netherlands.
Eur J Nucl Med Mol Imaging. 2009 Feb;36(2):269-74. doi: 10.1007/s00259-008-0924-9. Epub 2008 Aug 22.
To study striatal dopamine D(2) receptor availability in DYT11 mutation carriers of the autosomal dominantly inherited disorder myoclonus-dystonia (M-D).
Fifteen DYT11 mutation carriers (11 clinically affected) and 15 age- and sex-matched controls were studied using (123)I-IBZM SPECT. Specific striatal binding ratios were calculated using standard templates for striatum and occipital areas.
Multivariate analysis with corrections for ageing and smoking showed significantly lower specific striatal to occipital IBZM uptake ratios (SORs) both in the left and right striatum in clinically affected patients and also in all DYT11 mutation carriers compared to control subjects.
Our findings are consistent with the theory of reduced dopamine D(2) receptor (D2R) availability in dystonia, although the possibility of increased endogenous dopamine, and consequently, competitive D2R occupancy cannot be ruled out.
研究常染色体显性遗传疾病肌阵挛性肌张力障碍（M-D）的DYT11突变携带者纹状体多巴胺D(2)受体的可用性。
使用(123)I-IBZM单光子发射计算机断层扫描（SPECT）对15名DYT11突变携带者（11名有临床症状）和15名年龄及性别匹配的对照者进行研究。使用纹状体和枕叶区域的标准模板计算特定纹状体结合率。
经过年龄和吸烟校正的多变量分析显示，与对照者相比，有临床症状的患者以及所有DYT11突变携带者的左侧和右侧纹状体中，特定纹状体与枕叶的IBZM摄取率（SORs）均显著降低。
我们的研究结果与肌张力障碍中多巴胺D(2)受体（D2R）可用性降低的理论一致，尽管内源性多巴胺增加以及由此导致竞争性D2R占据的可能性不能排除。
