A new genetic marker identifies Finnish FTLD and ALS patients carrying a common genetic change
A new study led by researchers at the University of Eastern Finland in collaboration with FinnGen and international partners provides a novel genetic tool to identify C9orf72 repeat expansion-carrying frontotemporal lobar degeneration or ALS patients from large population-based cohorts. A novel genetic marker distinguishes C9orf72 repeat expansion carriers from non-carriers Hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of both frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). It is exceptionally prevalent among