Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset.

ABSTRACT:

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 proposed, although a consensus on their use has not been reached yet. In this paper, we aimed to evaluate possible markers of neuropathic disease onset intended to discriminate clinically asymptomatic carriers from early symptomatic patients, thus allowing timely treatment initiation.

Methods

Thirty-eight presymptomatic carriers were enrolled. Clinical and electrophys

SUBMITTER: Romano A 

PROVIDER: S-EPMC10942905 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature