Evidence map›Paper›PMID 31209302›Full record

ReviewNature reviews. Neurology2019

Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.

David Adams, Haruki Koike, Michel Slama, Teresa Coelho

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 238 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
238citing papers in PubMed, 3 pooled it
17.5field-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

238 citing papers in PubMed, 3 syntheses or guidelines pooled it, 427 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
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  7. Patisiran treatment in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy after liver transplantation.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2022
    Trial
  8. Trial
  9. Article
  10. Review
  11. Article
  12. Article
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  15. The role of "red flags" in the diagnostic work-up of hereditary transthyretin amyloidosis: a study using a machine-learning approach.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  16. Review
  17. Review
  18. Article
  19. Cost analysis of transthyretin amyloid cardiomyopathy in heart failure patients with preserved ejection fraction in Spain.The European journal of health economics : HEPAC : health economics in prevention and care · 2026
    Article
  20. Observational

178 more citing papers are in PubMed but not listed here.

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

4 authors at 3 institutions in 3 countries.

David AdamsAPHP, National Reference Center for FAP, INSERM U1195, University of Paris-Sud, Le Kremlin-Bicetre, France. david.adams@aphp.fr.ORCID http://orcid.org/0000-0002-8722-4108
Haruki KoikeDepartment of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Michel SlamaAPHP, National Reference Center for FAP, Cardiology Department, Hôpital Bichat, University of Paris-Sud, Le Kremlin-Bicetre, France.
Teresa CoelhoAndrade's Center and Neurophysiology Department, Centro Hospitalar do Porto, Porto, Portugal.
Université Paris-Sud · FRCentro Hospitalar do Porto · PTNagoya University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis with polyneuropathy (also known as familial amyloid polyneuropathy) is a condition with adult onset caused by mutation of transthyretin (TTR) and characterized by extracellular deposition of amyloid and destruction of the somatic and autonomic PNS, leading to loss of autonomy and death. This disease represents a model of the scientific and medical progress of the past 30 years. ATTRv amyloidosis is a worldwide disease with broad genetic and phenotypic heterogeneity that presents a diagnostic challenge for neurologists. The pathophysiology of the neuropathy is increasingly understood and includes instability and proteolysis of mutant TTR leading to deposition of amyloid with variable lengths of fibrils, microangiopathy and involvement of Schwann cells. Wild-type TTR is amyloidogenic in older individuals. The main symptoms are neuropathic, but the disease is systemic; neurologists should be aware of cardiac, eye and kidney involvement that justify a multidisciplinary approach to management. Infiltrative cardiomyopathy is usually latent but present in half of patients. Disease-modifying therapeutics that have been developed include liver transplantation and TTR stabilizers, both of which can slow progression of the disease and increase survival in the early stages. Most recently, gene-silencing drugs have been used to control disease in the more advanced stages and produce some degree of improvement.

Indexed as

Amyloid Neuropathies, FamilialDisease ProgressionHumansMutationPrealbuminSchwann CellsPrealbuminTTR protein, human

Identifiers

PMID31209302
OpenAlexW2952789707

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.