泰的T1 -遗传性痉挛性下肢瘫痪的经验三级中心在葡萄牙(P5.028) JF -神经学乔-神经学六世- 88 - 16补充SP - P5.028盟琼娜里贝罗AU -米盖尔佩雷拉盟克里斯蒂娜Januario Y1 首页- 2017/04/18 UR - //www.ez-admanager.com/content/88/16_Supplement/P5.028.abstract N2 -目的:描述患者遗传性痉挛性下肢瘫痪(HSP)中观察到的神经遗传学部门三级医院在葡萄牙中部,10年间(2006 - 2016)。背景:遗传性痉挛性下肢瘫痪是一组临床和遗传异质性疾病。在葡萄牙,其估计患病率为4.1:100 000居民——最常见的常染色体显性形式SPG4和SPG3A基因突变,在SPG11和SPG15基因,隐性的形式。设计/方法:回顾性队列研究临床文件修订,收集人口学、临床和遗传变量,和互补的考试。结果:我们确定了37例,属于31的家庭。58.3% (n = 21)是男性。症状发作的平均年龄是26.7岁,不同的从1到56岁。平均发病症状的第一个临床观察时间在我们部门是17.6年。48.7%的家庭历史暗示一种常染色体显性遗传的传播。我们发现突变11例(29.7%)。SPG4基因的突变是最常见的(6例pure-HSP,隶属于4科),其次是突变SPG11(3复合杂合的属于2家庭,complex-HSP表型)。一个病人SPG3A基因的突变,一个在ABCD1 (x连锁与mieloneuropathy adrenoleucodystrophy呈现)。剩下的26例,61.5%纯和38.5%与HSP的复杂形式,致病突变并不确定。 The most common additional neurological symptoms, which characterize the complex forms, are ataxia (40%), dysarthria (33.3%), epilepsy (20%) and cognitive decline (20%).Conclusions: In our cohort, we identified mutations in SPG4, SPG11 and SPG3A genes, in line with the literature concerning the Portuguese population. Albeit the extensive genetic workup, we were unable to identify mutations in the majority of our group, presenting mainly with pure forms of HSP.Disclosure: Dr. Ribeiro has nothing to disclose. Dr. Pereira has nothing to disclose. Dr. Januario has nothing to disclose. ER -