PT -期刊文章AU -卡拉菲格罗亚盟-克里斯托弗·戈麦斯AU -保尔森盟-苏珊帕尔曼AU -杰里米Schmahmann AU - s Subramony盟盟乔治·威尔莫特-特蕾莎Zesiewicz盟Tetsuo Ashizawa盟Stefan Pulst TI -前疾病的分子诊断准确性和年龄CRC-SCA发生变化,多中心研究脊髓小脑的共济失调(S12.003) DP - 2012年4月24日TA -神经病学PG - S12.003 S12.003 VI - 78 IP - 1补充4099 - //www.ez-admanager.com/content/78/1_Supplement/S12.003.short 4100 - //www.ez-admanager.com/content/78/1_Supplement/S12.003.full所以Neurology2012 4月首页24日;之前78 AB -目的:确定精度的分子诊断和CAG-dependence发病的年龄在美国全国SCA队列。背景的临床研究财团脊髓小脑的共济失调(CRC-SCA)是一种临床研究小组的结果多站点研究脊髓小脑的共济失调(sca)。差异归因于CAG重复长度受到多麸醯胺酸在障碍通常是在60 - 80%。设计/方法:收集的临床资料和CAG基因型245例,SCA1 n = 44岁SCA2 n = 42岁SCA3 n = 101, SCA6 n = 58岁。发病的年龄被认为是第一个步态共济失调的迹象。CAG重复长度测定复合PCR其次是毛细管电泳与内部标准和桑格测序样本人口的10%的气,从重复预测准确率达到了100%。结果:除了一个示例中,所有之前的分子遗传作业SCA1, 2、3、6是正确的。然而,在35%的样本重复长度变化1重复,2 9%和3% 3或更高。我们与CAG重复长度相关发病的年龄。删除后16个相关的个体(n = 229)的r2 CRC-SCA SCA1队列是0.49,0.41 (SCA2), 0.44 (SCA3)和0.15 (SCA6)。Conclusions: Retesting of DNA samples in a single laboratory showed minor differences with prior testing by academic or commercial laboratories or prior recording of data. None of the SCAs showed an r2 close to previously reported values. This is likely due to our multi-center design, geographic diversity, and exclusion of 1st degree relatives. The amount of variance attributable to the CAG repeat may be smaller than assumed by prior studies and points to the importance of genetic background and environmental factors.Supported by: Grants by the NIH RC1NS068897 and 5R01NS033123.Disclosure: Dr. Figueroa has nothing to disclose. Dr. Gomez has nothing to disclose. Dr. Paulson has received personal compensation for activities with Shire. Dr. Paulson has received research support from Shire. Dr. Perlman has received research support from Santhera Pharmaceuticals. Dr. Schmahmann has nothing to disclose. Dr. Subramony has received personal compensation for activities with Athena Diagnostics. Dr. Subramony has received personal compensation in an editorial capacity for the Handbook of Clinical Neurology. Dr. Wilmot has nothing to disclose. Dr. Zesiewicz has received personal compensation for activities with Teva Pharmaceuticals as a speaker. Dr. Zesiewicz has received research support from Bobby Allison Ataxia Research Center, National Ataxia Foundation, Astellas Pharmaceuticals, Pfizer, Friedreich's Ataxia Research Alliance, Takeda, Biovail Corporation, Southern Illinois University, and Allon Pharmaceuticals. Dr. Ashizawa has nothing to disclose. Dr. Pulst has received personal compensation for activities with Athena Diagnostics.Tuesday, April 24 2012, 15:00 pm-16:30 pm