TY - T1的震颤麻痹的临床特点额颞叶痴呆综合征与变异< em > MAPT, PGRN < / em >, < em > C9ORF72 < / em > (P06.075) JF -神经学乔-神经病学SP - P06.075 LP - P06.075六世- 78 - 1补充AU - Rodolfo Savica AU -尼尔Graff-Rad首页ford盟玛丽DeJesus-Hernandez AU - David Knopman盟的船只埃德里非盟-布兰登引导盟凯伦王桂萍盟——罗纳德·彼得森盟——尼古拉·卢瑟福盟-马修·贝克盟罗莎说Rademakers AU -布拉德利Boeve Y1 - 2012/04/26 UR - //www.ez-admanager.com/content/78/1_Supplement/P06.075.abstract N2 -目的:比较和对比的特点震颤麻痹的情况下有不同的基因突变与额颞叶大叶性变性(FTLD)。背景FTLD与基因突变有关的微管相关蛋白(MAPT), progranulin (PGRN)和GGGGCC hexanucleotide重复扩张72 9号染色体上的开放阅读框(C9ORF72)。影响个人的几个FTLD综合症表现出帕金森症。帕金森症的具体功能与这些突变尚未特征明显。设计/方法:使用前瞻性收集的数据UPDRS每年访问过程中,我们分析了帕金森病的患者受到的三个突变的影响。结果:我们比较与C90RF72 14例,12与MAPT PGRN和12震颤麻痹。对称akinetic-rigid震颤麻痹表型在大多数情况下是存在的。Hypomimia和动作迟缓是最常见的功能。地震与C90RF72目前在5%的情况下,与MAPT 18%,与PGRN缺席在所有情况下。没有一个在他左旋多巴治疗管理从治疗中受益。结论:尽管一些变化存在,那些家族FTLD C90RF72与基因突变有关,PGRN MAPT突变,帕金森病通常无着丝粒的刚性和对称没有地震的重要存在。支持:授予AG016574 AG006786, ALS协会,罗伯特·h·史密斯和克拉丽斯和阿比盖尔范布伦阿尔茨海默病梅奥基金会的研究项目。披露:Savica博士没有披露。Graff-Radford博士已经收到个人活动与补偿科德曼作为一个参与者在一个科学顾问委员会。 Dr. Graff-Radford has received personal compensation in an editorial capacity for the Neurologist. Dr. Graff-Radford has received research support from Janssen Pharmaceuticals, Inc., Pfizer Inc, Medivation, Inc., Forrest Laboratories and Allon Therapeutics Inc. Dr. DeJesus-Hernandez has nothing to disclose. Dr. Knopman has received personal compensation for activities with Lilly Pharmaceuticals as a data safety monitoring board member. Dr. Knopman has received personal compensation in an editorial capacity for Neurology. Dr. Knopman has received research support from Elan, Forest, and Baxter. Dr. Adeli has nothing to disclose. Dr. Boot has nothing to disclose. Dr. Kuntz has received research support from Cephalon, Inc. Dr. Petersen has received personal compensation for activities with Pfizer, Inc., Janssen Alzheimer's Immunotherapy, Elan Pharmaceuticals, and GE Healthcare. Dr. Rutherford has nothing to disclose. Dr. Baker has nothing to disclose. Dr. Rademakers has nothing to disclose. Dr. Boeve has nothing to disclose.Thursday, April 26 2012, 07:30 am-12:00 pm ER -