Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy

Chornenkyy, Yevgen; Fardo, David W.; Nelson, Peter T.

doi:10.1038/s41374-019-0196-y

Cited by 93Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy

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Chornenkyy, Yevgen, Fardo, David W., Nelson, Peter T.·2019·Laboratory Investigation

DOI 10.1038/s41374-019-0196-yPMC PMC6609463

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Abstract

We review the literature on Tau and TDP-43 proteinopathies in aged human brains and the relevant underlying pathogenetic cascades. Complex interacting pathways are implicated in Alzheimer's disease and related dementias (ADRD), wherein multiple proteins tend to misfold in a manner that is "reactive," but, subsequently, each proteinopathy may contribute strongly to the clinical symptoms. Tau proteinopathy exists in brains of individuals across a broad spectrum of primary underlying conditions-e.g., developmental, traumatic, and inflammatory/infectious diseases. TDP-43 proteinopathy is also expressed in a wide range of clinical disorders. Although TDP-43 proteinopathy was first described in the central nervous system of patients with amyotrophic lateral sclerosis (ALS) and in subtypes of frontotemporal dementia (FTD/FTLD), TDP-43 proteinopathy is also present in chronic traumatic encephalopathy, cognitively impaired persons in advanced age with hippocampal sclerosis, Huntington's disease, and other diseases. We list known Tau and TDP-43 proteinopathies. There is also evidence of cellular co-localization between Tau and TDP-43 misfolded proteins, suggesting common pathways or protein interactions facilitating misfolding in one protein by the other. Multiple pleiotropic gene variants can alter risk for Tau or TDP-43 pathologies, and certain gene variants (e.g., APOE ε4, Huntingtin triplet repeats) are associated with increases of both Tau and TDP-43 proteinopathies. Studies of genetic risk factors have provided insights into multiple nodes of the pathologic cascades involved in Tau and TDP-43 proteinopathies. Variants from a specific gene can be either a low-penetrant risk factor for a group of diseases, or alternatively, a different variant of the same gene may be a disease-driving allele that is associated with a relatively aggressive and early-onset version of a clinically and pathologically specific disease type. Overall, a complex but enlightening paradigm has emerged, wherein both Tau and TDP-43 proteinopathies are linked to numerous overlapping upstream influences, and both are associated with multiple downstream pathologically- and clinically-defined deleterious effects.

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Tau pathology is a defining feature not only of Alzheimer's disease (AD) but also of almost half of FTD cases (typically those without TDP-43 pathology).
“tau pathology is a defining feature not only of Alzheimer's disease (AD) but also of almost half of FTD cases (typically those without TDP-43 pathology)”
From The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders (2024) · cites this paper as Chornenkyy et al. 2019
The Introduction (page unavailable) identifies tau proteinopathy as an important pathologic hallmark in Alzheimer’s disease and related dementias, and the Genetic pleiotropy section (page unavailable) discusses FTLD-Tau. The copy does not establish that tau pathology occurs in almost half of FTD cases. Its Pathologic cascades and synergies section also describes tau and TDP-43 co-occurring, so it does not establish the claimed typical absence of TDP-43 in those cases. (LLM, conf=0.86)
Experimental — accuracy not yet measured
Age-dependent neurodegenerative disorders are clinically diverse but exhibit significant comorbidity and heterogeneous pathology both within and across disorders.
“Age-dependent neurodegenerative disorders are clinically diverse but exhibit significant comorbidity and heterogeneous pathology both within and across disorders”
From The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders (2024) · cites this paper as Chornenkyy et al. 2019

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Amyloidogenic sequences in native protein structures
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Astrocytic TDP-43 Pathology in Alexander Disease
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TDP-43 immunoreactivity in anoxic, ischemic and neoplastic lesions of the central nervous system
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Kinase Inhibitor Screening Identifies Cyclin-Dependent Kinases and Glycogen Synthase Kinase 3 as Potential Modulators of TDP-43 Cytosolic Accumulation during Cell Stress
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Microglial and Neuronal TDP-43 Pathology in Anti-IgLON5-Related Tauopathy
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Hippocampal Sclerosis but Not Normal Aging or Alzheimer Disease Is Associated With TDP-43 Pathology in the Basal Forebrain of Aged Persons
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A68 is a component of paired helical filaments of Gerstmann-Sträussler-Scheinker disease, Indiana kindred.
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Differences in a dinucleotide repeat polymorphism in the tau gene between Caucasian and Japanese populations: implication for progressive supranuclear palsy
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Elevated TMEM106B levels exaggerate lipofuscin accumulation and lysosomal dysfunction in aged mice with progranulin deficiency
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TMEM106B haplotypes have distinct gene expression patterns in aged brain
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A novel tau mutation, p.K317N, causes globular glial tauopathy
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Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland
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Brain Injury in the Context of Tauopathies
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Hyperphosphorylated tau is a cause of neuronal dysfunction in tauopathy
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Tau‐associated neuropathology in ganglion cell tumours increases with patient age but appears unrelated to ApoE genotype
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Molecular properties of TAR DNA binding protein-43 fragments are dependent upon its cleavage site
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Hippocampal Sclerosis in Older Patients: Practical Examples and Guidance With a Focus on Cerebral Age-Related TDP-43 With Sclerosis
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TDP-43 in ubiquitinated inclusions in the inferior olives in frontotemporal lobar degeneration and in other neurodegenerative diseases: a degenerative process distinct from normal ageing
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Genomics and CSF analyses implicate thyroid hormone in hippocampal sclerosis of aging
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Genetic Modifiers in Neurodegeneration
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Hippocampal Sclerosis of Aging, a Common Alzheimer’s Disease ‘Mimic’: Risk Genotypes are Associated with Brain Atrophy Outside the Temporal Lobe
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Age and apoE associations with complex pathologic features in Alzheimer's disease
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The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration
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Coexistence of TDP‐43 and tau pathology in neurodegeneration with brain iron accumulation type 1 (NBIA‐1, formerly Hallervorden‐Spatz syndrome)
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An immunohistochemical study of neurofibrillary tangle formation in post-encephalitic Parkinsonism.
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DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy
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Risk factors of hippocampal sclerosis in the oldest old
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Tau pathology and neurodegeneration: An obvious but misunderstood link
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Progressive Supranuclear Palsy in a family with TDP-43 pathology
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Accumulation of phosphorylated TDP ‐43 in the CNS of a patient with C ockayne syndrome
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TDP ‐43 pathology is present in most post‐encephalitic parkinsonism brains
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[82]Pastor P, Ezquerra M, Munoz E, Significant association between the tau gene A0/A0 genotype and Parkinson’s disease. Ann Neurol 2000; 47: 242– 5. 10665497

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The role of TDP-43 mislocalization in amyotrophic lateral sclerosis
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Resistance and resilience to Alzheimer’s disease pathology are associated with reduced cortical pTau and absence of limbic-predominant age-related TDP-43 encephalopathy in a community-based cohort
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Loss of TDP-43 function and rimmed vacuoles persist after T cell depletion in a xenograft model of sporadic inclusion body myositis
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TDP-43 pathology is associated with increased tau burdens and seeding
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Analysis of genes (TMEM106B, GRN, ABCC9, KCNMB2, and APOE) implicated in risk for LATE-NC and hippocampal sclerosis provides pathogenetic insights: a retrospective genetic association study
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Limbic-Predominant Age-Related TDP-43 Encephalopathy
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Limbic-predominant age-related TDP-43 encephalopathy (LATE-NC): Co-pathologies and genetic risk factors provide clues about pathogenesis
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TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans
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The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders
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Neurodegenerative pathologies associated with behavioral and psychological symptoms of dementia in a community-based autopsy cohort
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Mechanistic Insights into the Role of Molecular Chaperones in Protein Misfolding Diseases: From Molecular Recognition to Amyloid Disassembly
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Granulins modulate liquid–liquid phase separation and aggregation of the prion-like C-terminal domain of the neurodegeneration-associated protein TDP-43
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Disrupting pathologic phase transitions in neurodegeneration
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Drugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases
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LATE Neuropathologic Changes with Little or No Alzheimer Disease is Common and is Associated with Cognitive Impairment but Not Frontotemporal Dementia
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Poly(ADP-Ribosylation) in Age-Related Neurological Disease
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Alterations in Tau Metabolism in ALS and ALS-FTSD
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Immunotherapy targeting the C-terminal domain of TDP-43 decreases neuropathology and confers neuroprotection in mouse models of ALS/FTD
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Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains
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Hippocampal sclerosis, TDP‐43, and the duration of the symptoms of dementia of AD patients
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Role of tau versus TDP‐43 pathology on medial temporal lobe atrophy in aging and Alzheimer's disease
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Cross interactions between Apolipoprotein E and amyloid proteins in neurodegenerative diseases
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Pathologic correlates of aging-related tau astrogliopathy: ARTAG is associated with LATE-NC and cerebrovascular pathologies, but not with ADNC
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The Mechanistic Link Between Tau-Driven Proteotoxic Stress and Cellular Senescence in Alzheimer’s Disease
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Distinct neurotoxic TDP-43 fibril polymorphs are generated by heterotypic interactions with α-Synuclein
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Differences in Symptomatic Presentation and Cognitive Performance Among Participants With LATE-NC Compared to FTLD-TDP
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Genome wide analysis reveals heparan sulfate epimerase modulates TDP-43 proteinopathy
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Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort
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Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes
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DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy
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Concomitant LATE‐NC in Alzheimer's disease is not associated with increased tau or amyloid‐β pathological burden
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Hippocampal subfield and anterior-posterior segment volumes in patients with sporadic amyotrophic lateral sclerosis
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Application of deep learning to understand resilience to Alzheimer's disease pathology
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Unlocking the gate to GABARAPL2
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Synergistic toxicity in an in vivo model of neurodegeneration through the co-expression of human TDP-43M337V and tauT175D protein
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Direct interaction between TDP-43 and Tau promotes their co-condensation, while suppressing Tau fibril formation and seeding
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Decoding natural products for neuroprotection: Pathway networks and structural insights for drug development
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TDP-43 knockdown in mouse model of ALS leads to dsRNA deposition, gliosis, and neurodegeneration in the spinal cord
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Advances in Alzheimer’s disease therapeutics: biochemistry, exploring bioactive compounds and novel approaches
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Looking into Abnormal Co-Expressions of Tau and TDP-43 in the Realm of Mixed Dementia Types: A Double-Punch Scenario
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Brain TDP‐43 pathology in corticobasal degeneration: Topographical correlation with neuronal loss
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Hippocampal Sclerosis in Frontotemporal Dementia: When Vascular Pathology Meets Neurodegeneration
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<scp>APOE2</scp> Exacerbates <scp>TDP</scp>‐43 Related Toxicity in the Absence of Alzheimer Pathology
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Exploratory Tau PET/CT with [11C]PBB3 in Patients with Suspected Alzheimer’s Disease and Frontotemporal Lobar Degeneration: A Pilot Study on Correlation with PET Imaging and Cerebrospinal Fluid Biomarkers
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Unraveling the toxic effects mediated by the neurodegenerative disease–associated S375G mutation of TDP-43 and its S375E phosphomimetic variant
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The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?
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Differences and overlaps in TDP-43 pathology of ‘pure’ LATE-NC compared to LATE-NC coexisting with Alzheimer’s disease
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New criteria to predict LATE-NC in the clinical setting: Probable/Possible LATE and LANS
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Exploratory Mass Spectrometry of Cerebrospinal Fluid from Persons with Autopsy-Confirmed LATE-NC
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Targeting the TDP-43 low complexity domain blocks spreading of pathology in a mouse model of ALS/FTD
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A pathologic study of Perivascular pTDP-43 Lin bodies in LATE-NC
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The influence of Aβ-dependent and independent pathways on TDP-43 proteinopathy in Alzheimer’s disease: a possible connection to LATE-NC
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Atypical astroglial pTDP‐43 pathology in astroglial predominant tauopathy
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LATE-NC Stage 3: a diagnostic rubric to differentiate severe LATE-NC from FTLD-TDP
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TDP-43 Pathology and Prionic Behavior in Human Cellular Models of Alzheimer’s Disease Patients
Cuevas, E. P., Rodríguez-Fernández, A., Palomo, V., Martı́nez, A., & Martín‐Requero, Á. (2022) · Biomedicines · doi:10.3390/biomedicines10020385 · Cited by 7 · see citing works
Novel monoclonal antibodies targeting the RRM2 domain of human TDP-43 protein
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Parallel Appearance of Polyglutamine and Transactivation-Responsive DNA-Binding Protein 43 and Their Complementary Subcellular Localization in Brains of Patients With Spinocerebellar Ataxia Type 2
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Locus Coeruleus Degeneration Differs Between Frontotemporal Lobar Degeneration Subtypes
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Circular RNAs from the MAPT and TARDBP genes: Novel players in neurodegeneration?
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Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation
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Assessing Co‐Localization of ITM2B With Alzheimer's Disease and Limbic‐Predominant Age‐Related TDP ‐43 Encephalopathy Neuropathologic Changes
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Alzheimer mimicry: LATE and PART
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Molecular and environmental drivers of tau post-translational modifications and tau pathology
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Proteinopathies and Neurotrauma: Update on Degenerative Cascades.
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Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes
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Distinct neurotoxic TDP-43 fibril polymorphs can be generated by heterotypic interactions with α-synucleinPreprint
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Effect of MAPT gene variations on the brain electrical activity: A multiplex network study
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Tissue-specific immune and MAPK signatures in models of reduced Progranulin and Western diet
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Locus coeruleus TDP-43 pathology in a community-based cohort: Clinical and pathological correlates
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The Risk Factors and Causes for Alzheimer’s Disease
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Sexually Dimorphic Responses Reveal Multifaceted Benefits of Glibenclamide in Traumatic Brain Injury
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Direct binding of TDP-43 and Tau drives their co-condensation, but suppresses Tau fibril formation and seedingPreprint
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Reply: Selected cryptic exons accumulate in hippocampal cell nuclei in Alzheimer’s disease with and without associated TDP-43 proteinopathy
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TDP-43 proteinopathy
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Atypical features including acquired oculomotor apraxia in C9orf72 -associated familial primary lateral sclerosis
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Additional file 1 of Analysis of genes (TMEM106B, GRN, ABCC9, KCNMB2, and APOE) implicated in risk for LATE-NC and hippocampal sclerosis provides pathogenetic insights: a retrospective genetic association study
Dugan, A. J., Nelson, P. T., Katsumata, Y., Shade, L. M. P., Boehme, K. L., Teylan, M., Cykowski, M. D., Mukherjee, S., Kauwe, J. S. K., Hohman, T. J., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16625395
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Authors: Chornenkyy, Y., Fardo, D. W., & Nelson, P. T.
Affiliations: University of Kentucky (US)
Corresponding author: Nelson, Peter T.
ORCID: Chornenkyy, Yevgen
Fardo, David W.
Nelson, Peter T.
Venue: Laboratory Investigation
Publisher: Elsevier BV
Published: 2019-07
Volume: 99
Issue: 7
Pages: 993-1007
ISSN: 0023-6837 (ISSN-L)
DOI: 10.1038/s41374-019-0196-y
PMC: PMC6609463
OpenAlex: W2912060415
Cited by: 93
References: 206
Citations by year: 2026: 8 · 2025: 13 · 2024: 12 · 2023: 10 · 2022: 17 · 2021: 10 · 2020: 15 · 2019: 7 · 2018: 1
FWCI: 1.44
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1290 d)
Locations: Laboratory Investigation (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health (P30 AG028303)
National Institute on Aging (P30AG028383, R01AG057187, R21AG050146, R56AG057191, R01AG042475, R01AG028303, R01AG061111)
Topics: Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Keywords: TDP-43 proteinopathy, protein misfolding, Alzheimer's disease and related dementias, frontotemporal dementia, amyotrophic lateral sclerosis, chronic traumatic encephalopathy, hippocampal sclerosis, Huntington's disease, pleiotropy, APOE ε4, protein colocalization, brain aging
MeSH terms: Animals, Humans, Tauopathies, TDP-43 Proteinopathies, Genetic Pleiotropy

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Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy

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