文摘
摘要目的:报告突变患者通常与家族性肌萎缩性脊髓侧索硬化症(ALS),而是呈现corticobasal综合症(CBS)表型。
背景:哥伦比亚广播公司(CBS)被定义为非典型帕金森症和特殊检查结果表明皮质功能障碍。相比之下,corticobasal变性(CBD)是一个病态的实体,CBS的主要病理基础。CBD和额颞叶痴呆(FTD)通常涉及τ沉积,但在不同的地形分布,以及不同分子形式。CBD,很多情况下可能,此外,临床重叠。相比之下,大大减少临床有重叠CBS ALS的病理原因。在这里,我们报告一个CBS OPTN基因的突变有关。这个人有几个近亲患有家族性肌萎缩性侧索硬化症也被发现携带相同OPTN突变。
设计/方法:NA
结果:我们报告一位49岁的人6个月不自主运动的右上肢,其次是步态不稳定和内存的变化。家族史是两兄弟姐妹ALS OPTN基因的突变有关。在考试中,我们指出正确的hemidystonia,以及运动徐缓和轻快的右臂的反应。有步态共济失调,以及右侧实体感觉缺失,agraphesthesia、触觉灭绝,和观念运动的失用症。没有眼部异常,orthostasis或其他上运动神经元的特性。MRI显示左peri-Rolandic裂缝萎缩。基因测试显示纯合性丧失功能OPTN的剪切位点突变基因。
结论:这个案例说明了微分的影响在不同的家庭成员相同的基因突变。有趣的是,这个病人的病理导致CBS与继承共享相同的突变形式的肌萎缩性侧索硬化症。OPTN表型的异质性可能是同一神经病理学的一个后果,但是随着微分地形分布的神经系统。
披露:费尔德曼博士没有披露。贝纳塔尔博士已经收到个人薪酬在10000 - 49999美元的范围作为顾问生原体。贝纳塔尔博士的机构已收到个人薪酬在5000 - 9999美元的范围为箭头担任顾问。贝纳塔尔博士已经收到个人薪酬在10000 - 49999美元的范围为Alexion担任顾问。贝纳塔尔博士已经收到个人薪酬在500 - 4999美元的范围为Annexon担任顾问。贝纳塔尔博士已经收到个人薪酬在500 - 4999美元的范围为UCB担任顾问。贝纳塔尔博士已经收到个人薪酬在500 - 4999美元的范围为UniQure担任顾问。贝纳塔尔博士已经收到个人薪酬在5000 - 9999美元的范围为Immunovant担任顾问。贝纳塔尔博士已经收到个人薪酬在500 - 4999美元的范围为在科学咨询服务或数据安全监测委员会Alector。贝纳塔尔博士已经收到个人薪酬在500 - 4999美元的范围为在科学咨询服务或数据安全监测委员会赛诺菲。 Dr. Benatar has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Benatar has received intellectual property interests from a discovery or technology relating to health care. Dr. Benatar has received intellectual property interests from a discovery or technology relating to health care. Dr. Saraf Lavi has nothing to disclose. Dr. Latchman has nothing to disclose. Dr. Singer has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amneal. Dr. Singer has received personal compensation in the range of $10,000-$49,999 for serving as a Video Panel with CNS Ratings LLC. Dr. Singer has received personal compensation in the range of $500-$4,999 for serving as a Course Organiztion with Omniprex Scientific Medical Eduaction. Dr. Singer has received personal compensation in the range of $500-$4,999 for serving as a Reviewer with Health Monitor Network. Dr. Singer has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Movement Disorders Society. Dr. Singer has received personal compensation in the range of $500-$4,999 for serving as a Workshop Moderator with International Neurotoxin Association Inc. Dr. Singer has received personal compensation in the range of $500-$4,999 for serving as a Lecturer with CME Outfitteres LLC.
