Gyrification abnormalities in presymptomatic c9orf72 expansion carriers.
Eduardo CaverzasiGiovanni BattistellaStephanie A ChuHowie RosenTheodore P ZantoAnna KarydasWendy ShweGiovanni CoppolaDaniel H GeschwindRosa RademakersBruce L MillerMaria Luisa Gorno-TempiniSuzee E LeePublished in: Journal of neurology, neurosurgery, and psychiatry (2019)
Presymptomatic c9orf72 expansion carriers show regions of abnormally low gyrification as early as their 30s, decades before expected symptom onset. Cortical gyrification represents a novel grey matter metric distinctive from grey matter thickness or volume and detects differences in presymptomatic carriers at an early age.