TY - JOUR
T1 - Patterns of gray matter atrophy in genetic frontotemporal dementia
T2 - results from the GENFI study
AU - Cash, David M
AU - Bocchetta, Martina
AU - Thomas, David L
AU - Dick, Katrina M
AU - van Swieten, John C
AU - Borroni, Barbara
AU - Galimberti, Daniela
AU - Masellis, Mario
AU - Tartaglia, Maria Carmela
AU - Rowe, James B
AU - Graff, Caroline
AU - Tagliavini, Fabrizio
AU - Frisoni, Giovanni B
AU - Laforce, Robert
AU - Finger, Elizabeth
AU - de Mendonça, Alexandre
AU - Sorbi, Sandro
AU - Rossor, Martin N
AU - Ourselin, Sebastien
AU - Rohrer, Jonathan D
AU - Genetic FTD Initiative, GENFI (Benussi Luisa, Ghidoni Roberta, Pievani Michela autori Irccs)
N1 - Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.
PY - 2017
Y1 - 2017
N2 - Frontotemporal dementia (FTD) is a highly heritable condition with multiple genetic causes. In this study, similarities and differences of gray matter (GM) atrophy patterns were assessed among 3 common forms of genetic FTD (mutations in C9orf72, GRN, and MAPT). Participants from the Genetic FTD Initiative (GENFI) cohort with a suitable volumetric T1 magnetic resonance imaging scan were included (319): 144 nonmutation carriers, 128 presymptomatic mutation carriers, and 47 clinically affected mutation carriers. Cross-sectional differences in GM volume between noncarriers 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 although 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.
AB - Frontotemporal dementia (FTD) is a highly heritable condition with multiple genetic causes. In this study, similarities and differences of gray matter (GM) atrophy patterns were assessed among 3 common forms of genetic FTD (mutations in C9orf72, GRN, and MAPT). Participants from the Genetic FTD Initiative (GENFI) cohort with a suitable volumetric T1 magnetic resonance imaging scan were included (319): 144 nonmutation carriers, 128 presymptomatic mutation carriers, and 47 clinically affected mutation carriers. Cross-sectional differences in GM volume between noncarriers 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 although 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.
KW - Journal Article
U2 - 10.1016/j.neurobiolaging.2017.10.008
DO - 10.1016/j.neurobiolaging.2017.10.008
M3 - Article
C2 - 29172163
VL - 62
JO - Neurobiology of Aging
JF - Neurobiology of Aging
SN - 0197-4580
ER -