ReviewJournal of neurology2018
Transthyretin familial amyloid polyneuropathy: an update.
Review in Journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
What it found
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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
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.
- Pharmacological treatment for familial amyloid polyneuropathy.The Cochrane database of systematic reviews · 2020Pooled it
- Hereditary Transthyretin Amyloidosis in Brazilian Amazon Caused by a Globally Rare Variant Predominant in Asia.JACC. Case reports · 2026Article
- Efficacy and Limitations of Corneal Confocal Microscopy in Evaluating ATTRv-PN.Brain and behavior · 2026Article
- Disrupted glutathione homeostasis in the pathogenesis of TTR-V30M amyloidosis.Biomarker research · 2026Article
- Amyloidogenic phenotypical variation affects post-transplant outcome of hereditary transthyretin amyloidosis: a retrospective study.eGastroenterology · 2026Article
- Clinical and genetic analysis of a family with transthyretin amyloid polyneuropathy caused by a TTR Lys55Asn mutation.Orphanet journal of rare diseases · 2025Article
- Transthyretin abnormalities in amyotrophic lateral sclerosis: High molecular weight species in cerebrospinal fluid and stromal deposits in choroid plexus.Journal of neuropathology and experimental neurology · 2025Article
- Detection of TTR Amyloid in the Conjunctiva Using a Novel Fluorescent Ocular Tracer.Translational vision science & technology · 2024Article
- Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.Journal of neurology · 2023Article
- Red flags and adjusted suspicion index for distinguishing hereditary transthyretin amyloid polyneuropathy from idiopathic axonal polyneuropathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- EGCG-Mediated Protection of Transthyretin Amyloidosis by Stabilizing Transthyretin Tetramers and Disrupting Transthyretin Aggregates.International journal of molecular sciences · 2023Article
- Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.Orphanet journal of rare diseases · 2023Article
- Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis.Journal of neurology · 2023Article
- High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.Neurology. Genetics · 2022Article
- Gait Characterization and Analysis of Hereditary Amyloidosis Associated with Transthyretin Patients: A Case Series.Journal of clinical medicine · 2022Article
- Corneal Confocal Microscopy and the Nervous System: Introduction to the Special Issue.Journal of clinical medicine · 2022Article
- Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center.Arquivos de neuro-psiquiatria · 2022Article
- Retinal amyloid angiopathy.Arquivos de neuro-psiquiatria · 2022Article
- Single AAV-mediated CRISPR-Nme2Cas9 efficiently reduces mutant hTTR expression in a transgenic mouse model of transthyretin amyloidosis.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Skeletal Muscle Involvement Pattern of Hereditary Transthyretin Amyloidosis: A Study Based on Muscle MRI.Frontiers in neurology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive, fatal, inherited disorder first identified in Portugal and now recognized in all continents. Over the past decade, thanks to the availability of the genetic test, our knowledge on the range of clinical expressions of this disorder has expanded, including different patterns and progression rates of the neuropathy, as well as aspects of the cardiomyopathy, which can be prominent. In the mean time, new tools are being developed to detect earlier TTR amyloid deposition such as cardiac scintigraphy with technetium-labelled pyrophosphate tracers or small nerve fiber alterations from skin biopsies, or using neurophysiological approaches as well as magnetic resonance neurography (MRN). Such refinements, along with an increased awareness of the disease, should reduce the diagnostic delay and facilitate early treatment. In this regard, thanks to a better understanding of the TTR amyloid formation, major advances have been made, allowing for therapeutic developments which are less invasive than liver transplantation (LT). TTR stabilizer drugs are safe and seem to delay the disease progression in some groups of patients. Indeed, positive results have just been released from 2 phase III trials on TTR gene modifiers, namely silencing RNA and antisense oligonucleotide therapies. These recent advances open a new area in the field with the hope that we can safely bring about long-term stabilization of the disease. Furthermore, immunotherapies targeting the amyloid deposits are being explored.
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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.