ArticleJournal of neurology, neurosurgery, and psychiatry2024
Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.
Article in Journal of neurology, neurosurgery, and psychiatry, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Asymptomatic Carrier Neurologic Assessment: A Tool for Early Detection of Symptomatic Transition in Pathogenic TTR Gene Variant Carriers.European journal of neurology · 2026Article
- Transthyretin Amyloidosis-From Peculiar Neuropathy to a Treatable Chronic Multisystemic Disease.Genes · 2026Review
- Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil.Diagnostics (Basel, Switzerland) · 2025Article
- Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags.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
- Article
- TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.European journal of neurology · 2025Article
- Minimal invasive biopsies are highly sensitive for amyloid detection in hereditary transthyretin amyloidosis with polyneuropathy.Journal of the peripheral nervous system : JPNS · 2025Article
- Exploring Cardiac Sympathetic Denervation in Transthyretin-Mediated Hereditary Amyloidosis (ATTRv): Insights fromDiagnostics (Basel, Switzerland) · 2025Article
- Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.Muscle & nerve · 2025Article
- Early nociceptive evoked potentials in symptomatic and asymptomatic transthyretin mutation carriers.Frontiers in neurology · 2025Article
- Real-life experience with disease-modifying drugs in hereditary transthyretin amyloid polyneuropathy: A clinical and electrophysiological appraisal.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
- How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinion.Frontiers in neurologyArticle
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Authors and funding
15 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary transthyretin amyloidosis is a life-threatening autosomal dominant systemic disease due to pathogenic
methodsWe retrospectively analysed a cohort of ATTRv carriers with normal NCS results regardless of symptoms. Multimodal denervation and infiltration evaluations included a clinical questionnaire (Lauria and New York Heart Association (NYHA)) and examination, intra-epidermal nerve fibre density assessment, autonomic assessment based on heart rate variability, Sudoscan, meta-iodo-benzyl-guanidine scintigraphy, cardiac biomarkers, echocardiography, MRI and searches for amyloidosis on skin biopsy and bone scintigraphy.
resultsWe included 130 ATTRv carriers (40.8% men, age: 43.6±13.5 years), with 18 amyloidogenic
conclusionsMultimodal neurological and cardiac investigation of TTRv carriers is crucial for the early detection of ATTRv amyloidosis and initiation of DMT.
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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 Socratic graph.