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Article

TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.

European journal of neurology - 1 Apr 2025

Ait Tayeb Abd El Kader, Chazelas Pauline, Poinsignon Vianney, Adams David, Berthot Caroline, Cauquil Cécile, Dhaenens Claire-Marie, Francou Bruno, Jedraszak Guillaume, Labeyrie Céline, Redondo Clara Laffitte, Lia Anne-Sophie, Lopez Maureen, Proust Alexis, Sturtz Franck, Tosca Lucie, Verstuyft Céline, Echaniz-Laguna Andoni, Bouligand Jérôme

Abstract excerpt

BACKGROUND: Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disorder caused by mutations in the TTR gene. Associated with various clinical phenotypes like polyneuropathy and cardiomyopathy, ATTRv has historically had poor outcomes. Recent advances in biotherapies have significantly improved these outcomes. This study aimed to assess the evolution in genetic TTR variant screening since the advent of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 40260709
DOI: 10.1111/ene.70104
PMCID: PMC12012641

Genes

TTR

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

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