TY - T1的代谢变化< em > DYT11 < / em > myoclonus-dystonia JF -神经学乔-神经病学SP - 385 首页LP - 391 - 10.1212 / WNL。0 b013e31827f0798六世- 80 - 4盟麻仁碳AU -黛博拉·雷蒙德AU -劳里Ozelius盟瑞秋Saunders-Pullman AU -史蒂文Frucht盟Vijay Dhawan AU -苏珊Bressman盟大卫Eidelberg Y1 - 2013/01/22 UR - //www.ez-admanager.com/content/80/4/385.abstract N2 -目的:识别大脑区域与代谢变化DYT11 myocl首页onus-dystonia (DYT11-MD)相对于对照组,比较代谢异常在DYT11-MD发现在其他形式的遗传性肌张力障碍和posthypoxic肌阵挛。方法:[18 f]氟脱氧葡萄糖PET进行6学科与DYT11-MD(30.5±10.1岁)和6 nonmanifesting DYT11突变携带者(NM-DYT11;59.1±8.9岁)代表父母一代受影响的个人。这些数据是从与健康对照组相比,扫描数据使用分布整个大脑搜索和组差异被认为是重要的在p & lt;0.05(纠正,统计参数映射)。作为二级分析,重叠的异常被确定通过比较遗传性肌张力障碍(DYT1、DYT6 dopa-responsive肌张力障碍)和posthypoxic肌阵挛。结果:我们发现重大DYT11 genotype-specific代谢增加劣质脑桥和后丘脑腹内侧前额叶皮层以及减少。显著增加phenotype-related在场旁矢状面的小脑。与后一种异常posthypoxic肌阵挛,但不与其他形式的肌张力障碍。相比之下,所有的肌张力障碍群体表现出显著的代谢增加顶叶小叶。Conclusions: The findings are consistent with a subcortical myoclonus generator in DYT11-MD, likely involving the cerebellum. By contrast, subtle increases in the superior parietal cortex relate to the additional presence of dystonic symptoms. Although reduced penetrance in DYT11-MD has been attributed to the maternal imprinting epsilon-sarcoglycan mutations, NM-DYT11 carriers showed significant metabolic abnormalities that are not explained by this genetic model.BA=Brodmann area; DG=dystrophin-glycoprotein; DRD=dopa-responsive dystonia; DYT11-MD=DYT11 myoclonus-dystonia; FDG=18F-fluorodeoxyglucose; FWE=family-wise error; MD=myoclonus-dystonia; MNI=Montreal Neurological Institute; NM-DYT11=nonmanifesting DYT11 mutation carriers; SSRI=selective serotonin reuptake inhibitor ER -
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