@article {Agosta1508作者= {Federica Agosta和Edoardo卢卡雷利和阿尔玛Ghirelli尼洛莉娃和朱塞佩·马格纳尼弗朗西斯卡卡索Paola Caroppo和莎拉Prioni和卢西奥Tremolizzo Ildebrando Appollonio Vincenzo Silani Paola卡雷拉和马西莫菲利皮主持},title ={深灰质和海马参与遗传例额颞叶大叶性变性(1508)},体积={94}={15}补充数量,elocation-id ={1508} ={2020},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:评估萎缩深部灰质(GM)和海马结构使用磁共振成像(MRI)的病人受疾病影响额颞叶的叶的变性(FTLD)频谱与已知的基因突变。首页背景:遗传异质性基础FTLD频谱的不同临床表现阻碍识别有用的生物标记物,可以监测疾病进展。设计/方法:362例疾病FTLD的频谱是已知的致病突变筛查。3 d t1加权磁共振成像序列的3 t扫描仪获得55 C9ORF72突变携带者,入库单,TARDBP或SOD1基因,包括38与纯粹的运动神经元病(MND)和17额颞叶痴呆(FTD)。57岁,sex-matched健康对照组(HC)也加入。基底神经节的通用卷,丘脑和海马是获得使用第一次在目前和规范化的头部大小。MRI措施比较组间利用克鲁斯卡尔-沃利斯测试。结果:32例携带C9ORF72扩张分为两组21 C9-MND和11 C9-FTD。所有6 GRN-positive患者FTD临床表现,而病人显示TARDBP (n = 10)和SOD1突变(n = 7)纯MND。与HC相比,C9-MND病人显示两国pallidi萎缩,左尾状,海马等(p 0.001 {\ textendash} 0.007);C9-FTD病人显示萎缩在相同的结构,以及正确的尾状,左右壳核、丘脑和海马(p \ < 0.001 0.02 {\ textendash});GRN-FTD病人显示严重介入的基底神经节和双边海马(p \ {\ textendash} 0.05 p < 0.001)。 TARDBP-MND and SOD1-MND patients showed GM volume values that overlapped with those of HC.Conclusions: Our data suggest that measures of deep GM and hippocampal involvement might be useful markers of C9ORF72-related disorders, regardless of the clinical presentation within the FTLD spectrum.Disclosure: Dr. Agosta has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Biogen Idec, Novartis.Dr. Spinelli has nothing to disclose. Dr. Ghirelli has nothing to disclose. Dr. Riva has nothing to disclose. Dr. Magnani has nothing to disclose. Dr. Caso has nothing to disclose. Dr. Caroppo has nothing to disclose. Dr. Prioni has nothing to disclose. Dr. Lucio has nothing to disclose. Dr. Appollonio has nothing to disclose. Dr. Silani has nothing to disclose. Dr. Carrera has nothing to disclose. Dr. Filippi has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Bayer, Biogen Idec, Merck-Serono, Novartis, Roche, Sanofi Genzyme, Takeda, and Teva Pharmaceutical Industries. Dr. Filippi has received personal compensation in an editorial capacity for Journal of Neurology. Dr. Filippi has received research support from Biogen Idec, Merck-Serono, Novartis, Roche,Teva Pharmaceutical Industries.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/94/15_Supplement/1508}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }