TY -的T1 -亚历山大晚发性疾病的一个不寻常的演讲与缓慢的直立性震颤和小说GFAP变体(P6.065) JF -神经学乔-神经学六世- 90 - 15补充SP - P6.065 AU -德里克施迪盟Ralitza Gavrilova盟——Robert Watson Jr .首页 AU -安哈哈桑Y1 - 2018/04/10 UR - //www.ez-admanager.com/content/90/15_Supplement/P6.065.abstract N2 -目的:我们报告一个AOAD症状的情况下,第八届十年发病,呈现缓慢变异直立性震颤、以前没有描述。背景:亚历山大病(AxD)是脑白质营养不良,描述在婴儿期,青少年和成年发病形式,由于胶质原纤维酸性蛋白(GFAP)的突变基因。成人AxD (AOAD)的临床和影像学表型与最古老的报道开始the7th十年的生活。设计/方法:这是一个单例描述。病人评估和照顾multi-specialty团队,其中包括:神经学、神经放射学、医学遗传学。首页结果:患者直立性震颤和步态障碍,大脑的磁共振成像(MRI)显示脑软化从颈髓质到上面的线在T1矢状视图。有相应的双边对称的T2 hyperintensity腹侧脑桥,延长劣等通过髓质上颈线的水平。Genetic analysis revealed a heterozygous GFAP variant (c.1158C>A) that has not been previously reported in the Human Gene Mutation Database (HGMD).Conclusions: Our case serves to expand the diagnostic spectrum of AOAD both clinically and genetically.Disclosure: Dr. Stitt has nothing to disclose. Dr. Gavrilova has nothing to disclose. Dr. Watson Jr. has nothing to disclose. Dr. Hassan has nothing to disclose. ER -