Myelin loss in C9orf72 hexanucleotide expansion carriers
Myelin loss in C9orf72 hexanucleotide expansion carriers The expansion of the intronic GGGGCC repeat (G4C2) in the C9orf72 gene is the most common genetic cause of Frontotemporal Dementia (FTD), Amyotrophic Lateral Sclerosis (ALS) and in the continuum of FTD/ALS. Three pathological mechanisms associated with the presence of this genetic alteration have been described: a … Read more