Tau is a candidate gene for chromosome 17 frontotemporal dementia
Abstract
Frontotemporal dementia with parkinsonism, chromosome 17 type (FTDP-17), a recently defined disease entity, is clinically characterized by personality changes sometimes associated with psychosis, hyperorality, and diminished speech output, disturbed executive function and nonfluent aphasia, bradykinesia, and rigidity. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, and amygdala. Neurofibrillary tangles (NFTs) are seen in some but not all families. Inheritance is autosomal dominant and the gene has been regionally localized to 17q21-22 in a 2- to 4-centimorgan (cM) region flanked by markers D17S800 and D17S791. The gene for tau, the primary component of NFTs, is located in the same region of chromosome 17. Tau was evaluated as a candidate gene. Physical mapping studies place tau within 2 megabases or less of D17S791, but it is probably outside the D17S800-D17S791 FTDP-17 interval. DNA sequence analysis of tau coding regions in affected subjects from two FTDP-17 families revealed nine DNA sequence variants, eight of which were also identified in controls and are thus polymorphisms. A ninth variant (Val279Met) was found in one FTDP-17 family but not in the second FTDP-17 family. Three lines of evidence indicate that the Val279Met change is an FTDP-17 causative mutation. First, the mutation site is highly conserved, and a normal valine is found at this position in all three tau interrepeat sequences and in other microtubule associated protein tau homologues. Second, the mutation co-segregates with the disease in family A. Third, the mutation is not found in normal controls.
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Pedigree studies in hereditary FTDP-17 identified mutations in the MAPT gene, demonstrating that dysregulated or dysfunctional tau can be a causative factor in inducing neurodegeneration.
“Pedigree studies in hereditary cases of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) (3,4) identified mutations in the MAPT gene, demonstrating that dysregulated or dysfunctional tau can be a causative factor in inducing neurodegeneration.”
From Functional genomic screen and network analysis reveal novel modifiers of tauopathy dissociated from tau phosphorylation (2011) · cites this paper as [4]
MAPT mutations drive tau pathology.
“MAPT mutations drive tau pathology”
From The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders (2024) · cites this paper as Poorkaj et al. 1998
Dominantly inherited Tau mutations lead to frontotemporal dementia.
“The discovery of dominantly inherited Tau mutations leading to frontotemporal dementia (FTD) (Poorkaj et al., 1998; Spillantini et al., 1998)”
From Tau PTM Profiles Identify Patient Heterogeneity and Stages of Alzheimer’s Disease (2020) · cites this paper as Poorkaj et al., 1998
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Anti‐tau antibody reduces insoluble tau and decreases brain atrophy
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Frontotemporal lobar degeneration
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Tau isoform regulation is region‐ and cell‐specific in mouse brain
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Self-citationTau protein and neurodegeneration
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Molecular pathways that influence human tau-induced pathology in Caenorhabditis elegans
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Tau: From research to clinical development
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Biochemistry and Molecular Biology of Amyloid β‐Protein and the Mechanism of Alzheimer's Disease
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Frontotemporal Lobar Degeneration: Epidemiology, Pathology, Diagnosis and Management
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Self-citationTau filaments in neurodegenerative diseases
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Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
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Connecting the dots between tau dysfunction and neurodegeneration
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Accumulation of Filamentous Tau in the Cerebral Cortex of Human Tau R406W Transgenic Mice
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Differential Incorporation of Tau Isoforms in Alzheimer's Disease
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Immunotherapy Targeting Pathological Tau Protein in Alzheimer's Disease and Related Tauopathies
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Phosphorylation of Tau at S422 is enhanced by Aβ in TauPS2APP triple transgenic mice
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Progressive neurodegeneration in C. elegans model of tauopathy
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“Identification of >20 exonic and intronic mutations in the tau gene in FTDP-17 families indicates that tau is directly involved in neurodegeneration and neuronal loss (Clark et al., 1998; Hutton et al., 1998; Poorkaj et al., 1998; Reed et al., 2001; Spillantini et al., 1998).”
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“Previous reports have shown that AT8-immunoreactive tau co-localizes predominantly with free and endoplasmic reticulum-bound ribosomes in PSP and CBD (312), co-localizes with free ribosomes in FTDP-17 mutant tau in pretangle neurons (313) and with ribosomes in aged sheep that present with NFT in dendritic branches (31…”
BackgroundCytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila
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Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy
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“The discovery that tau mutations are able to cause neurodegenerative disease on their own (Poorkaj et al., 1998) was vital to highlight the clinical relevance of tau pathology.”
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- Authors
- Poorkaj, P., Bird, T. D., Wijsman, E., Nemens, E., Garruto, R. M., Anderson, L., Andreadis, A., Wiederholt, W. C., Raskind, M., & Schellenberg, G. D.
- Affiliations
- University of Washington (US)
- Binghamton University (US)
- University of California San Diego (US)
- Corresponding author
- Schellenberg, Gerard D.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1998-06
- Volume
- 43
- Issue
- 6
- Pages
- 815-825
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2172007938
- Cited by
- 1,374
- References
- 43
- Citations by year
- 2026: 13 · 2025: 15 · 2024: 28 · 2023: 34 · 2022: 37 · 2021: 46 · 2020: 44 · 2019: 42 · 2018: 32 · 2017: 33 · 2016: 31 · 2015: 45 · 2014: 41 · 2013: 42 · 2012: 45
- FWCI
- 55.31
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (P01AG014382, AG 05136, P01 AG14382, AG1176-03, P50AG005136)
- 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 protein, FTDP-17, frontotemporal dementia with parkinsonism, candidate genes, neurofibrillary tangles, autosomal dominant inheritance, genetic linkage, co-segregation, polymorphism
- MeSH terms
- Chromosome Mapping, Chromosomes, Human, Pair 17, Dementia, Family Health, Female, Frontal Lobe, Humans, Genetic Linkage, Male, Molecular Sequence Data, Pedigree, Polymorphism, Genetic, Temporal Lobe, tau Proteins, Sequence Homology, Amino Acid, DNA Primers
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