• Alessandro Salvalaggio, Daniele Coraci, Mario Cacciavillani, Laura Obici, Anna Mazzeo, Marco Luigetti, Francesca Pastorelli, Marina Grandis, Tiziana Cavallaro, Giulia Bisogni, Alessandro Lozza, Chiara Gemelli, Luca Gentile, Mario Ermani, Gian Maria Fabrizi, Rosaria Plasmati, Marta Campagnolo, Francesca Castellani, Roberto Gasparotti, Carlo Martinoli, Luca Padua, and Chiara Briani.
• Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy. salvalaggio.a@gmail.com.
• J. Neurol. 2021 Jan 1; 268 (1): 189-198.

BackgroundDiagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers.MethodsPatients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers.ResultsSixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = - 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001).ConclusionsThe present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi).

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