Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study.
Authors
Dick, Katrina M
van Swieten, John C
Borroni, Barbara
Masellis, Mario
Tartaglia, Maria Carmela
Finger, Elizabeth
Rossor, Martin N
Ourselin, Sebastien
Genetic FTD Initiative, GENFI,
Publication Date
2018-02Journal Title
Neurobiology of aging
ISSN
0197-4580
Publisher
Elsevier
Volume
62
Pages
191-196
Language
eng
Type
Article
This Version
VoR
Previous Version(s)
Physical Medium
Print-Electronic
Metadata
Show full item recordCitation
Cash, D. M., Bocchetta, M., Thomas, D. L., Dick, K. M., van Swieten, J. C., Borroni, B., Galimberti, D., et al. (2018). Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study.. Neurobiology of aging, 62 191-196. https://doi.org/10.1016/j.neurobiolaging.2017.10.008
Abstract
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.
Keywords
Genetic FTD Initiative, GENFI, Humans, Atrophy, Intercellular Signaling Peptides and Proteins, tau Proteins, Magnetic Resonance Imaging, Organ Size, Cohort Studies, Heterozygote, Mutation, Adult, Aged, Middle Aged, Female, Male, Frontotemporal Dementia, Gray Matter, C9orf72 Protein, Progranulins
Sponsorship
WELLCOME TRUST (103838/Z/14/Z)
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
MEDICAL RESEARCH COUNCIL (MR/J009482/1)
MEDICAL RESEARCH COUNCIL (MR/M009041/1)
Medical Research Council (MC_U105597119)
MEDICAL RESEARCH COUNCIL (MR/M024873/1)
Embargo Lift Date
2100-01-01
Identifiers
External DOI: https://doi.org/10.1016/j.neurobiolaging.2017.10.008
This record's URL: https://www.repository.cam.ac.uk/handle/1810/271709
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