@article {TicozziS13.008作者={尼古拉Ticozzi费德里科•佛和克劳迪娅Morelli斯特凡诺梅西纳和阿尔贝托弥和芭芭拉Poletti Cinzia Tiloca Ratti安东尼娅和卢卡Maderna Vincenzo Silani}, title ={表型异质性在意大利运动神经元疾病患者(S13.008)},体积={88}={16}补充数量,elocation-id = {S13.008} ={2017},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:比较与年龄相关的表型差异有一大群人的意大利与运动神经元病(MND)患者的影响。首页背景:众所周知,国防部已广泛的表型异质性。理解不同的年龄组中临床特点可以允许一个更好的分层ALS患者的临床试验。设计/方法:从一个连续的752年意大利MND患者表型比较5 \ %的我们选择最年轻和最古老的发病年龄。结果:752名患者(480(63.8 \ %)男性和272名女性(36.2 \ %)),672(89.4 \ %)肌萎缩性侧索硬化症,38(5 \ %)原发性侧索硬化症(PLS),和42(5.6 \ %)进行性肌萎缩(PMA)。氧化铝是58.3年。网站的出现是574年脊髓(76.3 \ %),球在178年(23.7 \ %)。年轻患者(n = 38岁,平均30.4年的氧化铝,范围18 {\ textendash} 37)主要是男性(29 = 76.3 \ %),而老病人(n = 38岁,平均79.7年的氧化铝,范围77 {\ textendash} 87)主要是女性(21 = 55.3 \ %;p = 0.009)。球开始明显更频繁的老年人(16 = 42.1 \ %)比年轻(5 = 13.2 \ %;p = 0.009)。 No patient in either group had neck, respiratory, or trunk onset. Young patients more frequently displayed a pyramidal phenotype (16 = 42.1\% vs 4 = 10.5\% among the elderly, p = 0.003) and had longer survival (mean, 103.5 vs 26.3 months). Mutations in ALS genes (FUS, SOD1, TARDBP, UBQLN2, CHCHD10) were found in 8 (21.1\%) young patients but not in the old.Conclusions: Our study shows that young- and elderly-onset MND patients are phenotypically different, with young-onset cases displaying a limb-predominant and pyramidal phenotype and longer survival. Young-onset patients also carry a heavier genetic burden.Study Supported by: Funding was provided by the Italian Ministry of Health (grant GR-2011-02347820 {\textquoteleft}IRisALS{\textquoteright}).Disclosure: Dr. Ticozzi has nothing to disclose. Dr. Verde has nothing to disclose. Dr. Morelli has nothing to disclose. Dr. Messina has nothing to disclose. Dr. Doretti has nothing to disclose. Dr. Poletti has nothing to disclose. Dr. Tiloca has nothing to disclose. Dr. Ratti has nothing to disclose. Dr. Maderna has nothing to disclose. Dr. Silani has nothing to disclose.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/88/16_Supplement/S13.008}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }