Can metabolic brain changes be detected in presymptomatic individuals who are carriers of a hexanucleotide repeat expansion in the C9orf72 gene (preSxC9) using time-of-flight fluorine 18–labeled fluorodeoxyglucose positron emission tomographic imaging and magnetic resonance imaging, and what is the association between the mutation and clinical and fluid biomarkers of amyotrophic lateral sclerosis and frontotemporal dementia? This evidence concerns the gene C9orf72 and frontotemporal dementia.