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Frontotemporal dementia with the V337M MAPT mutation: Tau-PET and pathology correlations
Open accessAbstract
Objective: To assess the efficacy of [18F]AV1451 PET in visualizing tau pathology in vivo in a patient with frontotemporal dementia (FTD) associated with the V337M microtubule-associated protein tau (MAPT) mutation. Methods: MAPT mutations are associated with the deposition of hyperphosphorylated tau protein in neurons and glia. The PET tracer [18F]AV1451 binds with high affinity to paired helical filaments tau that comprises neurofibrillary tangles in Alzheimer disease (AD), while postmortem studies suggest lower or absent binding to the tau filaments of the majority of non-AD tauopathies. We describe clinical, structural MRI, and [18F]AV1451 PET findings in a V337M MAPT mutation carrier affected by FTD and pathologic findings in his affected mother and in an unrelated V337M MAPT carrier also affected with FTD. The biochemical similarity between paired helical filament tau in AD and MAPT V337M predicts that the tau pathology associated with this mutation constitutes a compelling target for [18F]AV1451 imaging. Results: We found a strong association between topography and degree of [18F]AV1451 tracer retention in the proband and distribution of tau pathology in the brain of the proband9s mother and the unrelated V337M mutation carrier. We also found a significant correlation between the degree of regional MRI brain atrophy and the extent of [18F]AV1451 binding in the proband and a strong association between the proband9s clinical presentation and the extent of regional brain atrophy and tau accumulation as assessed by structural brain MRI and [18F]AV1451PET. Conclusion: Our study supports the usefulness of [18F]AV1451 to characterize tau pathology in at least a subset of pathogenic MAPT mutations.
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“The tau-V337M mutation selected for this study is located in MAPT exon 12, expressed in iPSC-derived neurons, and associated with FTD with abundant neurofibrillary tangles in frontal and temporal cortices and the cingulate gyrus and atrophy throughout the hippocampus and amygdala (Spillantini et al., 1996; Spina et al., 2017; Sumi et al., 1992).”
From ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids (2021) · cites this paper as Spina et al., 2017
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Metadata
- Authors
- Spina, S., Schonhaut, D. R., Boeve, B. F., Seeley, W. W., Ossenkoppele, R., O'Neil, J. P., Lazaris, A., Rosen, H. J., Boxer, A. L., Perry, D. C., Miller, B. L., Dickson, D. W., Parisi, J. E., Jagust, W. J., Murray, M. E., & Rabinovici, G. D.
- Affiliations
- Mayo Clinic (US)
- From the Memory and Aging Center (S.S., D.R.S., W.W.S., R.O., A.L., H.J.R., A.L.B., D.C.P., B.L.M., G.D.R.), Department of Neurology, and Department of Pathology (W.W.S), University of California, San Francisco; Department of Neurology (B.F.B., J.E.P.), Mayo Clinic, Rochester, MN; Helen Wills Neuroscience Institute (R.O., W.J.J., G.D.R.), University of California Berkeley; Alzheimercenter (R.O.), VU University Medical Center, Amsterdam, the Netherlands; Lawrence Berkeley National Laboratory (J.P.O.,...
- ORCID
- Venue
- Neurology
- Published
- 2017-02-21
- Volume
- 88
- Issue
- 8
- Pages
- 758-766
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC5344079
- OpenAlex
- W2582269893
- Cited by
- 96
- References
- 7
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 4 · 2023: 4 · 2022: 9 · 2021: 16 · 2020: 13 · 2019: 10 · 2018: 13 · 2017: 12
- FWCI
- 9.72
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- U.S. Department of Energy
- Larry L. Hillblom Foundation
- Bristol-Myers Squibb
- Eli Lilly and Company
- Biogen
- BrightFocus Foundation
- University of Pennsylvania
- FORUM Pharmaceuticals
- TauRx Pharmaceuticals
- National Institute for Health and Care Research
- National Institutes of Health
- Genentech
- Avid Radiopharmaceuticals
- NIHR Cambridge Biomedical Research Centre
- National Institute on Aging (K08AG052648, U01AG006786, R01AG041797, U01AG045390, R01AG032306, K23AG045289, K24AG045333, R01AG038791, P01AG019724, P50AG023501, P50AG016574)
- National Institute of Neurological Disorders and Stroke (R01NS092474, U54NS092089)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- frontotemporal dementia, 18F-AV-1451, tau PET imaging, neurofibrillary tangles, tauopathy, brain atrophy, hyperphosphorylated tau, familial frontotemporal dementia
- MeSH terms
- Aged, Brain, Carbolines, Female, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, tau Proteins, Fatal Outcome, Radiopharmaceuticals, Positron-Emission Tomography, Frontotemporal Dementia
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