ReviewCurrent opinion in neurology2016
Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.
Review in Current opinion in neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
92 citing papers in PubMed, 2 syntheses or guidelines pooled it, 235 citations in OpenAlex.
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Overview of treatments used in transthyretin-related hereditary amyloidosis: a systematic review.European journal of hospital pharmacy : science and practice · 2020Pooled it
- Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina.Molecular genetics & genomic medicine · 2021Trial
- First-in-Human Study of AG10, a Novel, Oral, Specific, Selective, and Potent Transthyretin Stabilizer for the Treatment of Transthyretin Amyloidosis: A Phase 1 Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Healthy Adult Volunteers.Clinical pharmacology in drug development · 2020Trial
- Tafamidis delays neurological progression comparably across Val30Met and non-Val30Met genotypes in transthyretin familial amyloid polyneuropathy.European journal of neurology · 2018Trial
- Evaluation of serum neurofilament light chain, GFAP, and peripherin as biomarkers in hereditary transthyretin amyloidosis.Scientific reports · 2026Article
- Article
- Application of Omics Analysis in the Clinical Practice and Research of Transthyretin Amyloidosis.Genes · 2026Review
- Amyloidogenic phenotypical variation affects post-transplant outcome of hereditary transthyretin amyloidosis: a retrospective study.eGastroenterology · 2026Article
- Sixty years of experience with hereditary transthyretin amyloidosis: Insights from the Swedish transthyretin amyloidosis registry.Journal of internal medicine · 2025Article
- Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.Scientific reports · 2025Article
- The other side of variant transthyretin amyloidosis with polyneuropathy: psychosocial experience of members of Portuguese families with late onset of the disease.Journal of community genetics · 2025Article
- Clinical features of hereditary transthyretin amyloidosis-polyneuropathy with transthyretin Ala97Ser(p.Ala117Ser) mutation in South Mainland China.Orphanet journal of rare diseases · 2025Article
- Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.European journal of neurology · 2025Article
- Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.Orphanet journal of rare diseases · 2024Article
- Amyloidosis in Childhood: A Review of Clinical Features and Comparison with Adult Forms.Journal of clinical medicine · 2024Review
- Article
- Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability.Journal of neurology · 2024Review
- "Living with a question mark": psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy.Journal of community genetics · 2024Article
- Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 6 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewTransthyretin familial amyloid polyneuropathy (TTR-FAP) is a highly disabling, life-threatening disease characterized by progressive sensorimotor and autonomic neuropathy. The profile of the disease across Europe is inadequately understood at present. RECENT
findingsThe incidence and clinical presentation of TTR-FAP varies widely within Europe, with early and late-onset disease subtypes. In those regions in which the disease is endemic (Portugal, Sweden, Cyprus, and Majorca), a Val30Met substitution in the TTR gene is the predominant genetic cause, whereas in the rest of Europe, cases of TTR-FAP are mainly sporadic with genetic heterogeneity. Current management strategies lack cohesion and patients can experience years of misdiagnosis and suboptimal treatment. SUMMARY: The article aims to disseminate the findings and recommendations from two recent meetings of the European Network for TTR-FAP (ATTReuNET), a panel comprising representatives from 10 European countries (Bulgaria, Cyprus, France, Germany, Italy, the Netherlands, Portugal, Spain, Sweden, and Turkey) with expertise in the diagnosis and management of TTR-FAP. We explore the epidemiology and genetic mark of TTR-FAP across Europe and assess current management strategies, with a view to developing an alternative framework - a networked approach to disease management with an emphasis on collaboration and sharing of best practice.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.