ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022
Hereditary transthyretin amyloidosis overview.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 3 of them syntheses 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
75 citing papers in PubMed, 3 syntheses or guidelines pooled it, 114 citations in OpenAlex.
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Assessing the effectiveness and safety of Patisiran and Vutrisiran in ATTRv amyloidosis with polyneuropathy: a systematic review.Frontiers in neurology · 2024Pooled it
- Neurological efficacy and safety of RNA therapeutics in hereditary transthyretin amyloidosis: a systematic review and meta-analysis of randomized controlled trials.Therapeutic advances in cardiovascular diseasePooled it
- Effect of Eplontersen in Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy Across Genetic Variants: An Exploratory Analysis From the NEURO-TTRansform Trial.European journal of neurology · 2026Trial
- Long-term efficacy and safety of inotersen for hereditary transthyretin amyloidosis: NEURO-TTR open-label extension 3-year update.Journal of neurology · 2022Trial
- Multimodal artificial intelligence to predict cardiomyopathy development in hereditary transthyretin amyloidosis.Open heart · 2026Article
- Lower mitochondrial DNA copy number in ATTRV50M Swedish carriers.Orphanet journal of rare diseases · 2026Article
- Automated identification of cardiac amyloidosis using cross-modal neural networks on [Formula: see text]-Pyrophosphate SPECT imaging and clinical data.The international journal of cardiovascular imaging · 2026Article
- Asymptomatic Carrier Neurologic Assessment: A Tool for Early Detection of Symptomatic Transition in Pathogenic TTR Gene Variant Carriers.European journal of neurology · 2026Article
- The long road to recognition: a historical review of amyloidosis from early pathology to disease-modifying therapy.Heart failure reviews · 2026Review
- Contemporary Description of Clinical Characteristics and Outcomes in Patients with Hereditary ATTR Amyloidosis: Results from the Multicountry OverTTuRe Study.Cardiology and therapy · 2026Article
- Efficacy and Safety of Vutrisiran in Patients with Hereditary Transthyretin-mediated Amyloidosis with Polyneuropathy: Analysis of the East Asian Subpopulation from HELIOS-A.Neurology and therapy · 2026Article
- Ultra High-Resolution Ultrasound Features of Carpal Tunnel Syndrome in Transthyretin Amyloidosis: A Cross-Sectional Study.Muscle & nerve · 2026Article
- Induced Circular Dichroism From the Binding of Achiral Bivalent Ligands to Transthyretin.Journal of molecular recognition : JMR · 2026Article
- Correlation between neuropathy severity and neurofilament light chain levels in Brazilian patients with hereditary transthyretin amyloidosis.Scientific reports · 2026Article
- Cardiac phenotype in hereditary transthyretin amyloidosis: correlations between fibril types and 99mTc-DPD uptake.Scientific reports · 2026Article
- Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort.Journal of clinical medicine · 2026Article
- First-Generation TTR Silencing Therapies in Hereditary Transthyretin Amyloidosis With Polyneuropathy: Real-World Insights From a German Single-Referral Center.European journal of neurology · 2026Article
- Advances in peptide nucleic acid for targeting RNA and genomic DNA.Cell reports. Physical science · 2026Article
- Physiological responses to mask-associated COFrontiers in public health · 2026Review
15 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
6 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations destabilize the native TTR favouring the dissociation of the tetramer into partially unfolded species that self-assemble into amyloid fibrils. Amyloid deposits and monomer-oligomer toxicity are the basis of multisystemic ATTRv clinical involvement. Peripheral nervous system (autonomic and somatic) and heart are the most affected sites. In the last decades, a better knowledge of pathomechanisms underlying the disease led to develop novel and promising drugs that are rapidly changing the natural history of ATTRv amyloidosis. Thus, clinicians face the challenge of timely diagnosis for addressing patients to appropriate treatment. As well, the progressive nature of ATTRv raises the issue of presymptomatic testing and risk management of carriers. The main aim of this review was to focus on what we know about ATTRv so far, from pathogenesis to clinical manifestations, diagnosis and hence patient's monitoring and treatment, and from presymptomatic testing to management of carriers.
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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.