@article{作者hsiungin9 - 1.001 = {Ging-Yuek融合和玛丽DeJesus-Hernandez和霍华德·费尔德曼和Pheth Sengdy凤凰Bouchard-Kerr和艾米丽Dwosh霍氏梁和爱丽丝一样,尼古拉·卢瑟福邦妮和马特·贝克和罗莎说Rademakers和伊恩·r·a·麦肯齐},title ={家族额颞叶痴呆的临床异质性和C9ORF72突变引起的肌萎缩性脊髓侧索硬化症(in9 - 1.001)},体积={78}={1}补充数量,页面= {in9 1.001 - 1.001——in9},年={2012},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:识别变量表示家族的额颞叶痴呆(FTD)和肌萎缩性脊髓侧索硬化症(ALS)由于C9ORF72突变。首页背景FTD和ALS症状与普通病理基质密切相关。最近的识别C9ORF72基因的突变引起的家族FTD和ALS进一步突出了他们的关系。在这项研究中,我们分析了临床表现来自16个家庭证明C9ORF72基因的突变无关。设计/方法:对象是从家庭证明FTLD-TDP病理纵向评估。临床图表也回顾了已故的学科。的GGGGCC hexanucleotide重复被repeat-primed PCR反应检测,RNA-FISH确认。临床诊断的FTD基于尼瑞和肌萎缩性侧索硬化症诊断标准是基于El堆渣场标准。使用半定量的临床特征的存在是得分分级系统(0,缺席;1、温和;2、温和;3、严重)。Results: Thirty subjects (70\% male) from 16 unrelated families with proven C9ORF72 mutation were identified. Age of onset ranged from 34 to 74. Initial diagnoses included 15 bvFTD, 9 ALS, 1 FTD-ALS, 2 alcoholic dementia, 1 mild cognitive impairment, 1 psychosis/schizophrenia, and 1 atypical Alzheimer disease. The common presenting symptoms are behavioural (47\%) and language (47\%), followed by executive dysfunction (40\%), affective changes (40\%), motor weakness (33\%), memory problems (30\%), and extrapyramidal symptoms (10\%). ALS increased to 50\% of the subjects in longitudinal follow up, and had a negative impact on survival (2.8 yrs +/- 1.5 with ALS vs. 8.4 +/- 3.8 without ALS).Conclusions: While patients with FTD and ALS associated with C9ORF72 hexanucleotide expansion have a common molecular mechanism and typical pathology, their initial clinical presentations can be quite variable and may overlap with other clinical syndromes. Early recognition requires a high clinical acumen. Other genetic or environmental factors may influence the presentation of clinical phenotype.Supported by: Canadian Institutes of Health Research [operating grants $\#$179009, $\#$74580] and the Pacific Alzheimer Research Foundation [center grant C06-01].Disclosure: Dr. Hsiung has nothing to disclose. Dr. DeJesus-Hernandez has nothing to disclose. Dr. Feldman has received personal compensation for activities with Bristol-Myers Squibb Company as an employee. Dr. Feldman holds stock and/or stock options in Bristol-Myers Squibb Company. Dr. Sengdy has nothing to disclose. Dr. Bouchard-Kerr has nothing to disclose. Dr. Dwosh has nothing to disclose. Dr. Leung has nothing to disclose. Dr. Fok has nothing to disclose. Dr. Rutherford has nothing to disclose. Dr. Baker has nothing to disclose. Dr. Rademakers has nothing to disclose. Dr. Mackenzie has nothing to disclose.Thursday, April 26 2012, 13:00 pm-17:00 pm}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/78/1_Supplement/IN9-1.001}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }