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Article

Is a Novel Transthyretin Gene Mutation Associated With Cerebral Amyloid Angiopathy?

European journal of neurology - 1 Aug 2025

Camilla Strazzabosco, Giulia Marinoni, Benedetta Storti, Francesca Balistreri, Stefania Magri, Giuliana Pollaci, Gemma Gorla, Laura Gatti, Anna Bersano

Abstract excerpt

OBJECTIVES: To report a case of a novel variant of the TTR gene associated with Cerebral Amyloid Angiopathy (CAA), thereby expanding the spectrum of TTR-related amyloidosis. METHODS: A 56-year-old man presented with a history of right fronto-parietal intracerebral haemorrhage and recurrent transient episodes of right arm paraesthesia. Based on clinical and radiological presentation, a probable CAA diagnosis was...

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Identifiers

PMID: 40855699
DOI: 10.1111/ene.70217
PMCID: PMC12378145

Genes

TTR

Variants

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