ReviewJournal of the peripheral nervous system : JPNS2021
The neuropathy in hereditary transthyretin amyloidosis: A narrative review.
Review in Journal of the peripheral nervous system : JPNS, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 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
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Assessing the effectiveness and safety of Patisiran and Vutrisiran in ATTRv amyloidosis with polyneuropathy: a systematic review.Frontiers in neurology · 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
- Clinical Diabetic Peripheral Neuropathy: Can It Be Reversed? Arguments for and Against From a NEUROdiab Debate.Journal of the peripheral nervous system : JPNS · 2026Review
- Wearables for Telemonitoring in ATTR-Amyloidosis: Current Perspectives.Sensors (Basel, Switzerland) · 2026Review
- Clinical and imaging profiling of restrictive cardiomyopathies: insights into amyloid, sarcoid, and iron overload phenotypes.Heart failure reviews · 2026Review
- In vivo endosomal escape assay identifies mechanisms for efficient hepatic LNP delivery.Nature biotechnology · 2026Article
- Systemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers: A Million Veteran Program Analysis.JACC. CardioOncology · 2026Article
- Risk of false-positive findings in the assessment of small nerve fibers in healthy subjects.Journal of neurology · 2026Article
- Unravelling the myriad physiologic roles of transthyretin: critical considerations for treating transthyretin amyloidosis.Annals of medicine · 2025Review
- Parallel Neurological and Cardiac Progression in Hereditary Transthyretin Amyloidosis: An Integrated Clinical and Imaging Study.Diagnostics (Basel, Switzerland) · 2025Article
- Sudoscan in ATTRv Amyloidosis: A Potential Marker of Disease Progression?Neurology and therapy · 2025Article
- Article
- Quantitative MRI Assessment Using Variable Echo Time Imaging of Peripheral Nerve Injury in ATTRv Amyloidosis Patients.European journal of neurology · 2025Article
- Clinical and biochemical characterization of asymptomatic carriers and symptomatic patients with hereditary transthyretin amyloidosis caused by TTR V30L mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Early nociceptive evoked potentials in symptomatic and asymptomatic transthyretin mutation carriers.Frontiers in neurology · 2025Article
- Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis.Orphanet journal of rare diseases · 2024Article
- Detection of ATTR aggregates in the plasma of polyneuropathic patients with ATTR-V30M amyloidosis.Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2024Article
- Clinical Cues for the Early Diagnosis of Transthyretin-Related Polyneuropathy.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Diflunisal versus tafamidis on neuropathy and cardiomyopathy in hereditary transthyretin amyloidosis.Annals of clinical and translational neurology · 2024Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary transthyretin amyloidosis (ATTRv) is a condition with adult onset, caused by mutation of the transthyretin (TTR) gene and characterized by extracellular deposition of amyloid fibrils in tissue, especially in the peripheral nervous system (PNS) and heart. PNS involvement leads to a rapidly progressive and disabling sensory-motor axonal neuropathy. Although awareness among neurologists increased in recent years thanks to new treatment options, ATTRv is frequently misdiagnosed, and thus a correct diagnosis can be delayed by several years. This review aims to draw the history and features of polyneuropathy in ATTRv based on pathological and electrophysiological correlates. We assessed original articles and case reports based on their relevance to ATTRv neuropathy and we included those appropriate for the scheme of this narrative review. Amyloid fibrils initially deposit in ganglia, causing an axonal neuropathy without amyloid deposits in distal segments (eg, sural nerve biopsy). Over time, amyloid fibrils spread along the nerves, leading to some demyelinating features in the context of severe axonal loss. This review highlights how the features of neuropathy change based on type of ATTRv (early vs late onset) and stage of disease.
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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.