ArticleJournal of neurology2021
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers.
Article in Journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review.BMC musculoskeletal disorders · 2023Pooled it
- A Quantitative Assessment of Upper Limb Motor Function Across Disease Stages in Hereditary Transthyretin Amyloidosis.Journal of the peripheral nervous system : JPNS · 2026Article
- Ultra High-Resolution Ultrasound Features of Carpal Tunnel Syndrome in Transthyretin Amyloidosis: A Cross-Sectional Study.Muscle & nerve · 2026Article
- Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil.Diagnostics (Basel, Switzerland) · 2025Article
- Clinical and Electrodiagnostic Correlations of Ultrasound-Detected Markedly Enlarged Median Nerve at the Wrist.Neurology international · 2025Article
- Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.Muscle & nerve · 2025Article
- Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.Orphanet journal of rare diseases · 2024Article
- Quantitative muscle ultrasound as a disease biomarker in hereditary transthyretin amyloidosis with polyneuropathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- Article
- Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Hereditary transthyretin amyloidosis presenting with carpal tunnel syndrome.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2024Article
- Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.Orphanet journal of rare diseases · 2023Review
- Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.Journal of neurology · 2023Article
- Ultrasonographic nerve enlargement in post-transplanted patient with hereditary transthyretin amyloidosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Enlarged cross-sectional area in peripheral nerves in Swedish patients with hereditary V30M transthyretin amyloidosis.Annals of medicine · 2023Article
- Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy.Frontiers in neurology · 2023Review
- Cutaneous silent period in ATTRv carriers: a possible early marker of nerve damage?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Nerve Conduction Studies of Dorsal Sural Nerve: Normative Data and Its Potential Application in ATTRv Pre-Symptomatic Subjects.Brain sciences · 2022Article
- Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.Journal of neurology, neurosurgery, and psychiatry · 2022Review
Corrections and comments
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Authors and funding
22 authors at 11 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDiagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers.
methodsPatients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers.
resultsSixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = - 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001).
conclusionsThe present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi).
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