Axonal polyneuropathy is the main feature of hereditary transthyretin amyloidosis (ATTRv). Nerve morphological abnormalities have been reported, but longitudinal changes have never been assessed. We performed a prospective widespread nerve ultrasound evaluation and nerve cross-sectional area (CSA) was compared with baseline data in both ATTRv patients and pre-symptomatic carriers. Thirty-eight subjects were evaluated (mean follow-up 17.1 months), among them 21 had polyneuropathy while 17 were pre-symptomatic carriers. CSA significantly increased at brachial plexus in both groups (p = 0.008 and p = 0.012) pointing to progressive brachial plexus enlargement as a longitudinal biomarker of both disease progression and disease occurrence in pre-symptomatic carriers.

Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis

Devigili G.;Rapezzi C.;
2021

Abstract

Axonal polyneuropathy is the main feature of hereditary transthyretin amyloidosis (ATTRv). Nerve morphological abnormalities have been reported, but longitudinal changes have never been assessed. We performed a prospective widespread nerve ultrasound evaluation and nerve cross-sectional area (CSA) was compared with baseline data in both ATTRv patients and pre-symptomatic carriers. Thirty-eight subjects were evaluated (mean follow-up 17.1 months), among them 21 had polyneuropathy while 17 were pre-symptomatic carriers. CSA significantly increased at brachial plexus in both groups (p = 0.008 and p = 0.012) pointing to progressive brachial plexus enlargement as a longitudinal biomarker of both disease progression and disease occurrence in pre-symptomatic carriers.
Salvalaggio, A.; Coraci, D.; Obici, L.; Cacciavillani, M.; Luigetti, M.; Mazzeo, A.; Pastorelli, F.; Grandis, M.; Cavallaro, T.; Bisogni, G.; Lozza, A.; Gemelli, C.; Gentile, L.; Russo, M.; Ermani, M.; Fabrizi, G. M.; Plasmati, R.; De Napoli, F.; Campagnolo, M.; Castellani, F.; Salvi, F.; Fenu, S.; Devigili, G.; Pareyson, D.; Gasparotti, R.; Rapezzi, C.; Martinoli, C.; Padua, L.; Briani, C.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2472787
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