Evidence map›Paper›PMID 38554150›Full record

ReviewJournal of neurology2024

Genetic forms of tauopathies: inherited causes and implications of Alzheimer's disease-like TAU pathology in primary and secondary tauopathies.

Felix Langerscheidt, Tamara Wied, Mohamed Aghyad Al Kabbani, Thilo van Eimeren, Gilbert Wunderlich, Hans Zempel

Open access · hybridAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
11.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

26 citing papers in PubMed, 34 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Tau in Alzheimer's disease: Shaping the future patient journey.The journal of prevention of Alzheimer's disease · 2026
    Review
  7. Article
  8. Review
  9. Review
  10. Alzheimer mimicry: LATE and PART.Journal of neural transmission (Vienna, Austria : 1996) · 2025
    Review
  11. Review
  12. Review
  13. Review
  14. Article
  15. Article
  16. Review
  17. Review
  18. Review
  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Felix LangerscheidtInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931, Cologne, Germany.ORCID http://orcid.org/0009-0007-5379-9089
Tamara WiedInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931, Cologne, Germany.ORCID http://orcid.org/0009-0005-1777-6619
Mohamed Aghyad Al KabbaniInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931, Cologne, Germany.ORCID http://orcid.org/0000-0001-6200-2448
Thilo van EimerenMultimodal Neuroimaging Group, Department of Nuclear Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937, Cologne, Germany.ORCID http://orcid.org/0000-0002-6951-2325
Gilbert WunderlichDepartment of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937, Cologne, Germany.ORCID http://orcid.org/0000-0001-5544-335X
Hans ZempelInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931, Cologne, Germany. hans.zempel@uk-koeln.de.ORCID http://orcid.org/0000-0002-7510-3077
University of Cologne · DEHochschule Bonn-Rhein-Sieg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tauopathies are a heterogeneous group of neurologic diseases characterized by pathological axodendritic distribution, ectopic expression, and/or phosphorylation and aggregation of the microtubule-associated protein TAU, encoded by the gene MAPT. Neuronal dysfunction, dementia, and neurodegeneration are common features of these often detrimental diseases. A neurodegenerative disease is considered a primary tauopathy when MAPT mutations/haplotypes are its primary cause and/or TAU is the main pathological feature. In case TAU pathology is observed but superimposed by another pathological hallmark, the condition is classified as a secondary tauopathy. In some tauopathies (e.g. MAPT-associated frontotemporal dementia (FTD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and Alzheimer's disease (AD)) TAU is recognized as a significant pathogenic driver of the disease. In many secondary tauopathies, including Parkinson's disease (PD) and Huntington's disease (HD), TAU is suggested to contribute to the development of dementia, but in others (e.g. Niemann-Pick disease (NPC)) TAU may only be a bystander. The genetic and pathological mechanisms underlying TAU pathology are often not fully understood. In this review, the genetic predispositions and variants associated with both primary and secondary tauopathies are examined in detail, assessing evidence for the role of TAU in these conditions. We highlight less common genetic forms of tauopathies to increase awareness for these disorders and the involvement of TAU in their pathology. This approach not only contributes to a deeper understanding of these conditions but may also lay the groundwork for potential TAU-based therapeutic interventions for various tauopathies.

Indexed as

Alzheimer DiseaseTauopathiestau ProteinsHumansMAPT protein, humantau ProteinsAlzheimer’s diseaseGenetic tauopathyMAPTPrimary tauopathySecondary tauopathyTAU

Identifiers

PMID38554150
PMCPMC11136742
OpenAlexW4393342327

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.