High Quality Content by WIKIPEDIA articles! C9ORF72 is a gene that codes for the C9ORF72 protein which is found in many regions of the brain. It is found in the cytoplasm of neurons as well as in presynaptic terminals. Disease causing mutations in the gene were first discovered by two independent research teams, led by Rosa Rademakers of Mayo Clinic and Bryan Traynor of the National Institutes of Health, and were first reported in October of 2011. The mutations in C9ORF72 are significant because it is the first pathogenic mechanism identified to be a genetic link between familial frontotemporal dementia and amyotrophic lateral sclerosis. As of 2012, it is the most common mutation identified that is associated with familial FTD and/or ALS.