HFE MUTATION ANALYSIS, IRON STUDIES, MRI, & CSF ANALYSIS IN ALS

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。本研究有两个主要目的：1)了解铁，特别是血色素沉着症（Hfe）突变在肌萎缩性侧索硬化症（ALS）发病机制中的作用；2)评价磁共振成像和脑脊液分析作为ALS患者诊断和随访的可能生物标志物。

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. There are 2 broad objectives of this research: 1) To understand the role of iron, and specifically the hemochromatosis (Hfe) mutations in the pathogenesis of amyotrophic lateral sclerosis (ALS); 2) To evaluate magnetic resonance imaging and cerebrospinal fluid analysis as possible biomarkers for the diagnosis and follow-up of patients with ALS.