% 0期刊文章%一个丹尼斯·迪克森%梅丽莎·默里%一个凯文Bieniek Ira古德曼% %一个Kouri Naomi %尼古拉·卢瑟福%玛丽DeJesus-Hernandez %马特贝克%罗莎说Rademakers % T进步遗忘痴呆,海马硬化和突变C9orf72(P05.099) % D J神经病学20首页13% % P P05.099-P05.099 % V 80% N % X 7补充目的:描述的存在C9ORF72 hexanucleotide重复在一个纯粹的海马硬化情况下,外部FTLD-TDP的设置。背景:最常见的原因与焦油dna结合蛋白家族额颞叶大叶性变性protein-43 (FTLD-TDP)最近发现的一个扩张hexanucleotide重复(GGGGCC)基因的非编码区域C9ORF72。海马硬化(HpScl)是一种常见的FTLD-TDP发现。设计/方法:我们确定了单个HpScl尸检例C9ORF72重复扩张。进行突变筛查repeat-primed聚合酶链反应和确认与南方的印迹。结果:病人有14年历史的慢慢进步遗忘综合征和可能的阿尔茨海默病的临床诊断。神经心理测试显示记忆障碍,但没有在其他认知域赤字。尸检显示海马硬化TDP-43免疫反应性的神经夹杂物边缘叶结构相对有限。神经炎的病理的免疫反应性的p62比TDP-43更频繁的在杏仁核和海马。频繁p62阳性神经元夹杂物出现在小脑颗粒神经元是典型的C9ORF72突变携带者。 There was no significant frontotemporal lobar degeneration or motor neuron disease.CONCLUSIONS: The findings in this patient suggest that the clinical and pathological spectrum of C9ORF72 repeat expansion is wider than frontotemporal dementia and motor neuron disease, including cases of progressive amnestic dementia with restricted TDP-43 pathology.Supported by: Robert E. Jacoby Professorship of Alzheimer Research and National Institutes of Health: P50-AG16574, P50-NS72187, P01-AG03949, R01-AG37491, R01-NS65782 and R01-AG026251.Disclosure: Dr. Dickson has received personal compensation for activities with Neotope, Inc. as a consultant. Dr. Murray has nothing to disclose. Dr. Goodman has nothing to disclose. Dr. Bieniek has nothing to disclose. Dr. Kouri has nothing to disclose. Dr. Rutherford has nothing to disclose. Dr. DeJesus-Hernandez has nothing to disclose. Dr. Baker has nothing to disclose. Dr. Rademakers has nothing to disclose.Wednesday, March 20 2013, 2:00 pm-7:00 pm %U