CLINICAL AND GENETIC ANALYSIS OF SPINAL MUSCULAR ATROPHY

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 脊髓性肌萎缩症(SMA)是一种常染色体隐性遗传性神经系统疾病，导致进行性虚弱，通常会过早死亡。它是导致两岁以下儿童死亡的主要遗传原因。我们建议使用一种新的技术，运动单位数量估计，结合功能运动状态、存活运动神经元(SMN)基因拷贝数和其他遗传修饰物、SMN蛋白水平和白细胞中的mRNA水平的评估，以更好地了解运动神经元失神经在这种疾病中的潜在病理生理学。本研究利用小学儿童医学中心的GCRC门诊部、综合临床研究中心住院部、核心实验室和儿科神经科诊所，通过桥梁与大学医院相连。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Spinal muscular atrophy (SMA) is an autosomal recessive neurologic disorder resulting in progressive weakness and often, premature death. It is a leading genetic cause of death in children less than age two years. We propose to use a novel technique, motor unit number estimation, along with assessment of functional motor status, survival motor neuron (SMN) gene copy number and other genetic modifiers, SMN protein levels and mRNA levels in white blood cells to better understand the underlying pathophysiology of motor neuron denervation in this disorder. This study utilizes the GCRC outpatient clinic, the General Clinical Research Center inpatient unit, the core laboratories and the pediatric neurology clinic at the Primary Children's Medical Center, connected to the University Hospital by a bridge.