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Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia
Elise G P Dopper1, Serge A R B Rombouts1, Lize C Jiskoot1
1From the Departments of Neurology (E.G.P.D., L.C.J., T.d.H., H.S., J.C.v.S.), Epidemiology (T.d.H.), and Neuropsychology (J.R.A.d.G., I.d.K.), Erasmus Medical Center, Rotterdam; Department of Radiology (E.G.P.D., S.A.R.B.R., I.M.V., M.A.v.B.), Leiden University Medical Center; Departments of Neurology (E.G.P.D.) and Clinical Genetics (A.R.H., P.R., J.C.v.S.), VU Medical Center, Amsterdam; Leiden Institute for Brain and Cognition (S.A.R.B.R., I.M.V., M.A.v.B.) and Institute of Psychology (S.A.R.B.R., I.M.V.), Leiden University; Department of Neurology (T.d.H.), Sint Franciscus Gasthuis, Rotterdam, the Netherlands; and Department of Neurology (W.W.S.) and Memory and Aging Center (W.W.S.), University of California, San Francisco.
Genetic mutations linked to frontotemporal dementia (FTD) show early brain changes. Structural and functional connectivity alterations appear before symptom onset, suggesting potential biomarkers for early detection.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Frontotemporal dementia (FTD) is a neurodegenerative disease.
- Mutations in MAPT (microtubule-associated protein tau) and GRN (progranulin) genes are associated with FTD.
- Early detection of FTD is challenging due to the lack of pre-symptomatic biomarkers.
Purpose of the Study:
- To investigate pre-symptomatic cognitive and neuroimaging changes in carriers of MAPT or GRN mutations.
- To identify potential early biomarkers for FTD.
Main Methods:
- A case-control study involving 75 healthy individuals (carriers and non-carriers of FTD-associated mutations).
- Neuropsychological assessments, structural MRI, diffusion tensor imaging (DTI), and resting-state functional MRI (fMRI) were performed.
- Voxel-based morphometry, tract-based spatial statistics, and functional connectivity analyses were used.
Main Results:
- Carriers showed subtle cognitive differences and reduced fractional anisotropy in the right uncinate fasciculus compared to non-carriers.
- Reduced functional connectivity was observed between the anterior midcingulate cortex, frontoinsula, and other brain regions in carriers.
- These connectivity changes correlated with age in carriers but not in controls.
Conclusions:
- Structural and functional brain connectivity alterations are detectable before the onset of FTD symptoms in mutation carriers.
- DTI and resting-state fMRI show promise as sensitive biomarkers for early FTD detection in clinical trials.
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