Cortical thinning and surface area loss in adult carriers of the C9orf72 repeat expansion


  • People that carry the C9orf72 repeat expansion have faster cortical thinning (CTh) throughout the aging process in anatomical areas that demonstrate atrophy in clinically symptomatic individuals.

Why this matters

    This suggests that the C9orf72 mutation has a pathogenic effect prior to the development of symptoms.