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Article

The role of "red flags" in the diagnostic work-up of hereditary transthyretin amyloidosis: a study using a machine-learning approach.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 12 Aug 2026

Pignolo Antonia, Sajeva Giada, Messina Christian, Magro Maria, Rini Nicasio, Alonge Paolo, Gerbino Gabriele, Parasporo Manfredi, Di Stefano Vincenzo, Brighina Filippo

Abstract excerpt

INTRODUCTION: Hereditary transthyretin amyloidosis (ATTRv) is a rare progressive, potentially life-threatening multisystem disorder caused by mutations in the transthyretin (TTR) gene, with variable penetrance and heterogeneous phenotypes, often leading to diagnostic delays, particularly in non-endemic regions. Identifying clinical "red flags" is crucial to shorten diagnostic latency. Machine learning (ML), a...

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Identifiers

PMID: 42584723
DOI: 10.1007/s10072-026-09285-w
PMCID: PMC13468852

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TTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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