Hereditary Frontotemporal Dementia Caused by Tau Gene Mutations
Open accessAbstract
Tau protein is involved in microtubule assembly and stabilization. Filamentous deposits made of tau constitute a defining characteristic of several neurodegenerative diseases. The relevance of tau dysfunction for neurodegeneration has been clarified through the identification of mutations in the Tau gene in cases with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17). Although the mechanisms by which these mutations lead to nerve cell death are only incompletely understood, it is clear that they cause the formation of tau filaments with distinct morphologies and isoform compositions. The range of tau pathology identified in FTDP‐17 recapitulates that in sporadic tauopathies, indicating a major role for tau dysfunction in these diseases.
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Frontotemporal dementia is caused by frontotemporal lobar degeneration (FTLD), which features abnormal aggregation of tau (FTLD-tau) or transactivating DNA-binding protein 43.
“Frontotemporal dementia is caused by frontotemporal lobar degeneration (FTLD), which features abnormal aggregation of the microtubule associated protein consisting of tau (FTLD-tau) or the transactivating DNA-binding protein 43.16,18–20”
From Association of Cognitive and Behavioral Features Between Adults With Tuberous Sclerosis and Frontotemporal Dementia (2020) · cites this paper as [20]
The FRONTOTEMPORAL DEMENTIA section (around p. 64) describes FTD cases with abnormal tau inclusions, and the following passage reports TDP-43 in inclusions in familial FTD. But the paper also describes a third pathological subtype lacking distinctive histopathology; it does not establish tau or TDP-43 aggregation as a feature of every case. (LLM, conf=0.84)
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- Authors
- Van Swieten, J., & Spillantini, M. G.
- Affiliations
- University of Cambridge (GB)
- Venue
- Brain Pathology
- Publisher
- Wiley
- Published
- 2007-01
- Volume
- 17
- Issue
- 1
- Pages
- 63-73
- ISSN
- 1015-6305 (ISSN-L)
- 1750-3639
- PMC
- PMC8095608
- OpenAlex
- W1974343562
- Cited by
- 195
- References
- 9
- Citations by year
- 2026: 7 · 2025: 11 · 2024: 7 · 2023: 7 · 2022: 9 · 2021: 6 · 2020: 8 · 2019: 10 · 2018: 6 · 2017: 10 · 2016: 9 · 2015: 8 · 2014: 13 · 2013: 15 · 2012: 16
- FWCI
- 1.32
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Brain Pathology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- tau gene mutations, tau protein, FTDP-17, tauopathy, tau filaments, microtubule stabilization, neurodegeneration, neuronal cell death, tau isoforms
- MeSH terms
- Brain, Chromosomes, Human, Pair 17, Dementia, Humans, Mutation, tau Proteins, Parkinsonian Disorders
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