Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers.
Gabriella Le BlancVincent Jetté PomerleauJillian McCarthyBarbara BorroniJohn van SwietenDaniela GalimbertiRaquel Sanchez-ValleRobert LaForceFermin MorenoMatthis SynofzikCaroline GraffMario MasellisMaria C TartagliaJames B RoweRik VandenbergheElizabeth FingerFabrizio TagliaviniAlexandre de MendonçaIsabel SantanaChris ButlerAlex GerhardAdrian DanekJohannes LevinMarkus OttoGiovanni FrisoniSandro SorbiJonathan D RohrerSimon Ducharmenull nullPublished in: Annals of neurology (2020)
C9orf72 mutation carriers have faster cortical thinning and surface loss throughout adulthood in regions that show atrophy in symptomatic subjects. This suggests that the pathogenic effects of the mutation lead to structural cerebral changes decades prior to symptoms. ANN NEUROL 2020 ANN NEUROL 2020;88:113-122.