Student Presenter(s): Mike Chung
Faculty Mentor: Maria Plummer
School/College: Health Professionals, Old Westbury

Recognition of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) as a spectrum of neurodegenerative disease is rapidly evolving. Both disorders have been shown to overlap in their pathology, genetics, and clinical presentations. Recent investigations have identified genetic hallmarks that concretely bridge those highly heterogenic disorders as a spectrum. The discovery of hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72), TAR-DNA binding protein (TDP)-43 proteinopathy, and their implicated functions in neurodegeneration and autoimmunity suggests possible underlying pathogenesis of ALS/FTD and toxic neurodegeneration at large. The autoimmunity aspect of C9orf72 is particularly exciting as it may elucidate a novel paradigm that not only encompasses the origin of neurodegeneration, but also that of autoimmunity. Here, we briefly review the latest findings of functions of TDP- 43 and C9rof72 and further discuss the possibility of an overarching theme in neurodegenerative diseases.