RT期刊文章SR电子T1 HFE p。His63Asp多态性不是一个修饰符的ALS表型(P2.049)摩根富林明神经病学神经学乔FD Lippincott Williams &首页威尔金斯SP P2.049 VO 84 14补充A1 Gabriele莫拉A1马可barberi A1加布里埃尔Restagno A1莫拉Brunetti A1马里奥Sabatelli A1玛塞拉Zollino A1普Battistini A1弗朗西斯卡Conforti A1克劳迪娅Caponnetto A1 Paola Mandich A1杰西卡Mandrioli A1西尔瓦娜Penco A1基督教Lunetta A1朱塞佩Borghero A1玛丽亚Murru A1玛丽亚Monsurro A1 Gioacchino泰德A1保罗Volanti A1伊莎贝拉西蒙A1吉安卡洛Logroscino A1 Francesco Logullo A1 Fabrizio Salvi A1尼洛莉娃A1布莱恩Traynor A1安德里亚·卡尔沃A1阿德里亚诺亚蔡年2015 UL //www.ez-admanager.com/content/84/14_Supplement/P2.049.abstract AB目的:评估HFE p的影响。His63Asp表型多态性的一系列大型的意大利ALS患者。背景:最近报道,p。His63Asp HFE基因的多态性加速疾病进展在动物模型的肌萎缩性侧索硬化症(Nandar et al, Biochim Biophys学报2014)。这个发现被复制在35 ALS患者(2014年苏et al,肌肉神经)。设计/方法:共有1333名意大利ALS患者(234撒丁岛人的祖先)p基因分型。His63Asp HFE基因的多态性。患者与其他基因多态性被排除在外。所有患者也为C9ORF72评估、TARDBP SOD1和付家突变。患者的生存和临床表型与HFE多态性。结果:1136名ALS患者,389 (29.2 [percnt])杂合的p。His63Asp多态性。 The following mutations of major ALS genes were found: TARDBP, 75; C9ORF72, 72; SOD1, 26, FUS 14. Patients with and without HFE polymorphism did not significantly differ for age at onset (61.9 [SD 11.4] vs 62.0 [SD 11.9] years, p= n.s.) or site of onset of symptoms (bulbar onset, 25.8[percnt] vs. 25.7[percnt], p=n.s.) Survival from symptom onset was also similar in the two group of patients (p.His63Asp carries, median survival time 3.4 years, interquartile range [IQR] 2.1-6.7; non-carriers, 3.2 years, IQR 1.9-6.1]). These findings did not change when excluding patients with major gene mutations or when evaluating separately patients from continental Italy and Sardinia. CONCLUSIONS: Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients. Study Supported by: Ministero della Salute (grant RF-2010-2309849), European Community’s Health Seventh Framework Programme (grant agreement 259867), ARISLA (SARDINIALS project) and Joint Programme - Neurodegenerative Disease Research (Italian Ministry of Education and University) (Sophia and Strength projects).Disclosure: Dr. Mora has nothing to disclose. Dr. Barberis has nothing to disclose. Dr. Restagno has nothing to disclose. Dr. Brunetti has nothing to disclose. Dr. Sabatelli has nothing to disclose. Dr. Zollino has nothing to disclose. Dr. Battistini has nothing to disclose. Dr. Conforti has nothing to disclose. Dr. Caponnetto has nothing to disclose. Dr. Mandich has nothing to disclose. Dr. Mandrioli has nothing to disclose. Dr. Penco has nothing to disclose. Dr. Lunetta has nothing to disclose. Dr. Borghero has nothing to disclose. Dr. Murru has nothing to disclose. Dr. Monsurro has nothing to disclose. Dr. Tedeschi has received personal compensation for activities with Sanofi-Aventis Pharmaceuticals, Inc., Merck Serono, Bayer Schering Pharma, Novartis, and Biogen Idec as a speaker. Dr. Volanti has nothing to disclose. Dr. Simone has received personal compensation for activities with Sanofi-Aventis Pharmaceuticals, Inc., and Biogen Idec. Dr. Logroscino has received personal compensation for activities with Novartis, GlaxoSmithKline, and Boerhinger, and as a member of the Cohorts Project in Biomedicine. Dr. Logroscino has received personal compensation in an editorial capacity for Karger. Dr. Logullo has nothing to disclose. Dr. Salvi has received research support from the Fondazione Hilarescere. Dr. Riva has nothing to disclose. controls" funded by Merck Inc., $1,300,000. Dr. Calvo has nothing to disclose. Adriano Chiò serves on a scientific advisory board for Biogen Idec, Cytokinetics and Italfamaco,Tuesday, April 21 2015, 7:30 am-12:00 pm