Increased Cortical Thickness and Caudate Volume Precede Atrophy in PSEN1 Mutation Carriers

摘要: Neuroimaging studies of familial Alzheimer's disease allow investigation the process before clinical onset. We performed semi-automated MRI analysis to evaluate cortical thickness (CTh), grey matter (GM) volumes, and GM diffusivity indexes in PSEN1 mutation carriers (MC). recruited 11 MC from 4 families with mutations (L286P, M139T, K239N) 6 12 non-familial healthy controls. were classified as either asymptomatic (n=6) or symptomatic (n=5). Subjects underwent structural diffusion-weighted 3-Tesla scanning. CTh volumes subcortical structures calculated group comparisons performed. Structural images reanalyzed voxel-based morphometry methodology. Cerebrospinal fluid amyloid-β1-42 levels (Aβ) measured. found that presented widespread thinning, especially precuneus parietotemporal areas (p<0.01) increased mean (MD) these compared Unexpectedly, MC, 9.9 years prior predicted age onset, (p<0.01), caudate decreased MD (p<0.05) HC. In correlated adjusted age. Aβ values within normal limits AMC. conclusion, at early preclinical stages, regions volume increase decrease thereafter progression. The different trends suggest microstructural changes underlie contrasting morphometric findings. Reactive neuronal hypertrophy or/and inflammation may account for MC.