Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are progressive neurodegenerative diseases, whose most frequent genetic cause is hexanucleotide repeat (HR) expansion from normal 2 to 20 repeats to pathological hundreds of repeats within a non-coding region of the C9orf72 gene. Here, C9orf72 is linked to frontotemporal dementia.