Cash, DM;
Bocchetta, M;
Thomas, D;
Dick, KM;
van Swieten, JC;
Borroni, B;
Galimberti, D;
... Rohrer, JD; + view all
(2017)
Patterns of grey matter atrophy in genetic frontotemporal dementia: results from the GENFI study.
Neurobiology of Aging
10.1016/j.neurobiolaging.2017.10.008.
(In press).
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Abstract
Frontotemporal dementia (FTD) is a highly heritable condition with multiple genetic causes. In this study, similarities and differences of grey matter (GM) atrophy patterns were assessed among three common forms of genetic FTD (mutations in C9orf72, GRN, MAPT). Participants from the Genetic FTD Initiative (GENFI) cohort with a suitable volumetric T1 MRI scan were included (319): 144 non-mutation carriers, 128 presymptomatic mutation carriers, and 47 clinically affected mutation carriers. Cross-sectional differences in GM volume between non-carriers and carriers were analyzed using voxel based morphometry. In the affected carriers, each genetic mutation group exhibited unique areas of atrophy but also a shared network involving the insula, orbitofrontal lobe and anterior cingulate. Presymptomatic GM atrophy was observed particularly in the thalamus and cerebellum in the C9orf72 group, the anterior and medial temporal lobes in MAPT, and the posterior frontal and parietal lobes as well as striatum in GRN. Across all presymptomatic carriers, there were significant decreases in the anterior insula. These results suggest that while there are important differences in atrophy patterns for each group (which can be seen presymptomatically), there are also similarities (a fronto-insula-anterior cingulate network) that help explain the clinical commonalities of the disease.
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