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Article

Hereditary transthyretin amyloidosis overview.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2022

Manganelli Fiore, Fabrizi Gian Maria, Luigetti Marco, Mandich Paola, Mazzeo Anna, Pareyson Davide

Abstract excerpt

Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations destabilize the native TTR favouring the dissociation of the tetramer into partially unfolded species that self-assemble into amyloid fibrils. Amyloid...

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Identifiers

PMID: 33188616
DOI: 10.1007/s10072-020-04889-2
PMCID: PMC9780126

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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