TY -的T1 SYNE1突变导致成人发病常染色体隐性共济失调病人保留反射在巴西(P3.004) JF -神经学乔-神经学六世- 88 - 16补充SP - P3.004盟玛丽亚Thereza Drumond指出伽马AU - Jose Luiz Pedroso盟奥兰多B首页arsottini AU -安妮Noreau盟加布里埃尔Houle盟Alexandre Dionne-Laporte AU -帕特里克·迪翁盟人卷轴Y1 - 2017/04/18 UR - //www.ez-admanager.com/content/88/16_Supplement/P3.004.abstract N2 -目的:进行SYNE1突变屏幕使用串联有针对性的测序和测试它的频率在一群零星的巴西共济失调的情况下。我们的这个屏幕的详细的临床描述患者窝藏SYNE1突变。背景:小脑性共济失调是一种神经疾病,主要表现为不稳定步态和病例的分布是世界性的。纯合子突变血影蛋白repeat-containing核内蛋白1基因(SYNE1)最初报道导致小脑性共济失调的一种纯粹的法裔加拿大人。设计/方法:这是一个回顾性研究共济失调中执行单元,圣保罗大学联邦德(UNIFESP),巴西。特定群体包括39个受试者待定共济失调被确认与发病年龄介于10到50年,小脑萎缩和保留的反应。基因组DNA提取及其在麦吉尔大学和基因组测序进行魁北克创新中心(蒙特利尔,魁北克,加拿大)结果:我们发现四个患者(3男1女)SYNE1突变。突变是小说,与之前截然不同的报道。出现症状后他们的第五个十年的生活,但只有一个是在青春期。所有四个患者小脑性共济失调和留存的反应,其中一半出现锥体束的迹象,只有人痉挛状态。有吞咽困难患者的一半。 Only one patient disclosed an abnormal EMG pattern and distal amyotrophy (upper and lower limbs), represented by motor neuron disease. Brain MRI disclosed marked cerebellar atrophy.Conclusions: Our results represent a first insight on the epidemiological impact of SYNE1 mutations on the etiology of Brazilian adult onset recessive ataxias; 10% of the undetermined cases. This study therefore offers a guidance for neurologists to request SYNE1 testing for sporadic adult onset ataxia with retained reflexes and cerebellar atrophy.Disclosure: Dr. Drumond Gama has nothing to disclose. Dr. Pedroso has nothing to disclose. Dr. Barsottini has nothing to disclose. Dr. Noreau has nothing to disclose. Dr. Houle has nothing to disclose. Dr. Dionne-Laporte has nothing to disclose. Dr. Dion has nothing to disclose. Dr. Rouleau has nothing to disclose. ER -