% 0期刊文章%阿德里亚诺亚蔡%安德里亚·卡尔沃%一个马可barberi % Maura Brunetti %加布里埃尔Restagno %一个马里奥Sabatelli Gabriele Mora % %一个普Battistini %弗朗西斯卡Conforti %克劳迪娅Caponnetto %一个Paola Mandich杰西卡Mandrioli % %一个玛塞拉Zollino %一个朱塞佩•Borghero %玛丽亚Murru %玛丽亚Monsurro %保罗Volanti %一个吉安卡洛Logroscino伊莎贝拉西蒙% % Fabrizio Salvi %一个尼洛莉娃%吉娜约翰逊%布莱恩Traynor %一个西尔瓦娜Penco %基督教Lunetta % T CHCHD10 ALS患者的基因突变的意大利血统(P2.052) % D J神经病学2015% % P P2.052 % V 84% N % X 14补充目标。首页评估CHCHD10基因突变的频率在一个大的歧视和sALS意大利病人。背景。错义突变CHCHD10基因的最近报道与家族性肌萎缩性侧索硬化症和额颞叶痴呆的大家庭西班牙血统(Bannwarth等,2014)。没有数据在意大利ALS患者迄今已报告。设计/方法。总共64个无关的歧视病人和224个显然sALS病人,对C9ORF72不利,SOD1 TADBP和付家突变进行评估。共有165名健康对照组也进行评估。4编码外显子和侧翼CHCHD10 intronic地区被DHPLC放大了PCR和分析(Transgenomic, Inc .,奥马哈市东北,美国)。PCR产品heteroduplex概要文件被测序ABI 3130测序仪(美国生活技术,培育城市,CA)。 Results. A total of three cases (1 fALS and e apparently sALS) (1.0[percnt]) carried a c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of the CHCHD10 gene. This mutation was not detected in the control population. The mutation resulted to be pathogenetic according to in silico analyses. Two other aminoacidic substitutions were also found, both in apparently sporadic patients, i.e. p.Ala92Thr and p.Pro96Thr. Both these substitution are likely to represent benign polymorphisms. Clinically, the cases are classical ALS, without cognitive involvement or cerebellar signs. Discussion. CHCHD10 missense mutations have been found in about 1[percnt] of Italian ALS patients. The same mutation has been recently described 2 apparently sporadic French ALS patients (Chaussenot et al, 2014). CHCDH10 mutations seem to be concentrated in exon 2 and can cause a ALS with a classic phenotype. Study supported. Ministero della Salute (grant RF-2010-2309849), European Community’s Health Seventh Framework Programme (grant agreement 259867), Joint Programme - Neurodegenerative Disease Research (Italian Ministry of Education and University) (Sophia and Strength projects)Disclosure: No Dr. Calvo has nothing to disclose. Dr. Barberis has nothing to disclose. Dr. Brunetti has nothing to disclose. Dr. Restagno has nothing to disclose. Dr. Mora has nothing to disclose. Dr. Sabatelli has nothing to disclose. Dr. Battistini has nothing to disclose. Dr. Conforti has nothing to disclose. Dr. Caponnetto has nothing to disclose. Dr. Mandrioli has nothing to disclose. Dr. Mandich has nothing to disclose. Dr. Zollino has nothing to disclose. Dr. Borghero has nothing to disclose. Dr. Murru has nothing to disclose. Dr. Monsurro has nothing to disclose. 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. Salvi has received research support from the Fondazione Hilarescere. Dr. Riva has nothing to disclose. Dr. Johnson has nothing to disclose. controls" funded by Merck Inc., $1,300,000. Dr. Penco has nothing to disclose. Dr. Lunetta has nothing to disclose.Tuesday, April 21 2015, 7:30 am-12:00 pm %U