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

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.