PT -期刊文章盟易Shiau Ng AU -戈尔曼Grainne盟维多利亚奈斯比特AU -罗伯特Pitceathly AU - John Grady AU -安德鲁Schaefer AU -亚历山德拉光明盟-凯瑟琳·费尼盟Shamima拉赫曼AU -乔安娜Poulton AU -罗伯特·泰勒AU -迈克尔·汉娜AU -道格拉斯·特恩布尔非盟-罗伯特·麦克法兰TI -线粒体疾病的表型和基因型——发现从国家线粒体疾病组(P2.061) DP - 2015年4月06 TA -神经病学PG - P2.061 VI - 84 IP - 14补充4099 - //www.ez-admanager.com/content/84/14_Supplement/P2.061.short 4100 - //www.ez-admanager.com/content/84/14_Supplement/P2.061.full所以Neurology2015 4月06;首页84 AB -目的:为了更好地理解线粒体疾病的人口分布,表型和基因型的变化和进展与线粒体疾病有关。背景:线粒体疾病的表型和基因型的异质性往往造成了相当大的诊断挑战临床医生和科学家。到目前为止,几乎没有有效的治疗方法,没有已知的治疗线粒体疾病因此支持性护理与多学科的输入在日常临床实践中仍然是一个基本要素。然而,自然历史的缺乏使得预测,长期管理、遗传咨询和讨论生育选择非常困难。方法:本研究线粒体疾病患者队列研究(英国)是在2009年开发的。患者的生化和/或线粒体疾病的遗传学证据从三个主要招募线粒体疾病中心(纽卡斯尔、伦敦和牛津)额外的9次中心。数据整理回顾性和前瞻性包括临床表型、家族血统,分子遗传学,肌肉活检发现,血液检查,神经生理学评价、大脑和心脏成像调查和纽卡斯尔线粒体疾病成人规模(nmda)得分系统的方式。门冬氨酸及其儿科等价用于检查个人疾病负担和进展。结果:有1165名患者(85 [percnt]是成年人)注册在队列上。 Sixty-five percent of patients have primary mitochondrial DNA mutations, 23[percnt] have mutations in nuclear genes and 12[percnt] have biochemical evidence of mitochondrial disease but genetically undetermined. The common neurological features (based on NMDAS, n=452) are myopathy (64[percnt]), chronic progressive external ophthalmoplegia (40[percnt]), cerebellar ataxia (39[percnt]), cognitive impairment (33[percnt]), dysphagia (21[percnt]), epilepsy (19[percnt]) and stroke-like episode (9[percnt]). Other systemic involvements are gastrointestinal (44[percnt]), endocrine/diabetes (22[percnt]) and cardiac (20[percnt]). Conclusion: This national cohort offers a unique opportunity to deep phenotype a large group of mitochondrial disease patients, bridge the gap in our understanding of disease progression, develop clinical guideline on patient care and facilitate patient recruitment for any future trials.Disclosure: Dr. Ng has nothing to disclose. Dr. Gorman has nothing to disclose. Dr. Nesbitt has nothing to disclose. Dr. Pitceathly has nothing to disclose. Dr. Grady has nothing to disclose. Dr. Schaefer has nothing to disclose. Dr. Bright has nothing to disclose. Dr. Feeney has nothing to disclose. Dr. Rahman has nothing to disclose. Dr. Poulton has nothing to disclose. Dr. Taylor has nothing to disclose. Dr. Hanna has received personal compensation for activities with Bristol-Myers Squibb as an employee. Dr. Turnbull has nothing to disclose. Dr. McFarland has nothing to disclose.Tuesday, April 21 2015, 7:30 am-12:00 pm