ReviewCurrent opinion in neurology2016
Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.
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 59 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
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 131 citations in OpenAlex.
- Electrochemical skin conductance: a systematic review.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2019Pooled it
- Clinical Practice and Diagnostic Trends in Hereditary Transthyretin Amyloidosis: A 25-Year Observational Study.Medicina (Kaunas, Lithuania) · 2026Observational
- Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Hereditary Transthyretin Amyloidosis Polyneuropathy.Journal of the peripheral nervous system : JPNS · 2026Article
- Exploratory Evaluation of the Predictive Value of Serum Neurofilament Light Chain for Autonomic Neuropathy in Hereditary Transthyretin Amyloidosis.Journal of clinical medicine · 2026Article
- Case Report: When peripheral neuropathy meets hoarseness and cough: a diagnostic challenge and insights from a case of late-onset ATTRv.Frontiers in medicine · 2026Article
- Cardiac Amyloidosis: Tribulations and New Frontiers.Journal of personalized medicine · 2025Review
- Impact of Genetic Testing Family Screening in Hereditary Transthyretin Amyloidosis.JACC. CardioOncology · 2025Article
- Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.Journal of clinical medicine · 2025Article
- Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.Scientific reports · 2025Article
- Intracutaneous Amyloid Deposition is Associated With Nerve Conduction Studies Deterioration in Presumed Asymptomatic Pathogenic Variant TTR Carriers.European journal of neurology · 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
- Diagnosis and Management of Mixed Phenotype Hereditary Transthyretin Amyloidosis: A Case-Based, Canadian Perspective.CJC open · 2025Review
- Intraepineurial Fat Fraction: A Novel MR Neurography-Based Biomarker in Transthyretin Amyloidosis Polyneuropathy.European journal of neurology · 2025Article
- Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.Muscle & nerve · 2025Article
- Diagnostic delay in patients with sporadic hereditary transthyretin-mediated amyloidosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- The potential clinical and public health implications of presymptomatic genetic testing for transthyretin amyloidosis in African American/Black adults in the United States.Frontiers in genetics · 2025Article
- Clinical utility of neurofilament light chain as a biomarker for disease onset and progression in hereditary transthyretin amyloidosis.Frontiers in neurology · 2025Article
- Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.Journal of the American Heart Association · 2024Article
- Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: Case Reports.Medical sciences (Basel, Switzerland) · 2024Article
- "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
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 7 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewThese recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers of the mutated gene. RECENT
findingsThe effectiveness of current treatment options is still limited in patients with TTR-FAP beyond stage I. Diagnosis in the early stages of TTR-FAP is essential to prevent or delay the progression of disease. Existing legal and cultural issues differ among countries within Europe. Experts of the European Network for TTR-FAP (ATTReuNET) concluded that genetic counselling for diagnosed individuals and at-risk family members is mostly beneficial and should be carried out with care by trained professionals. Systematic and regular monitoring of an asymptomatic carrier is necessary to detect early signs of TTR-FAP and maximize the effectiveness of treatment. This includes five areas of assessment: history/clinical examination, sensorimotor function, autonomic dysfunction, cardiac function, and renal function. At least two related symptoms and positive biopsy findings are required to confirm diagnosis of TTR-FAP. SUMMARY: Early detection of TTR-FAP is essential to improve the prognosis of TTR-FAP. ATTReuNET recommends genetic counselling and routine monitoring for asymptomatic carriers of TTR-FAP.
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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.