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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 - 1 Apr 2024

Romano Angela, Guglielmino Valeria, Bisogni Giulia, Di Paolantonio Andrea, Truini Andrea, Minnella Angelo Maria, Sciarrone Maria Ausilia, Vitali Francesca, Maceroni Martina, Galosi Eleonora, Sabatelli Mario, Luigetti Marco

Abstract excerpt

BACKGROUND: Hereditary transthyretin (ATTRv) amyloidosis is a heterogeneous, progressive, multisystemic disease with a life-threatening course if left untreated. Given the current availability of effective therapies, close follow-up of presymptomatic TTR mutation carriers is essential to recognize disease onset at the earliest sign. In addition to routine techniques, in recent years several novel tools have been...

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Amyloid Neuropathies, Familial
Early Diagnosis
Mutation
Prealbumin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37938457
DOI: 10.1007/s10072-023-07177-x
PMCID: PMC10942905

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