Alessandro Salvalaggio1,2, Daniele Coraci3, Mario Cacciavillani4, Laura Obici5, Anna Mazzeo6, Marco Luigetti7, Francesca Pastorelli8, Marina Grandis9,10, Tiziana Cavallaro11, Giulia Bisogni12, Alessandro Lozza5, Chiara Gemelli9, Luca Gentile6, Mario Ermani13, Gian Maria Fabrizi11, Rosaria Plasmati8, Marta Campagnolo13, Francesca Castellani13, Roberto Gasparotti14, Carlo Martinoli10,15, Luca Padua3,16, Chiara Briani13. 1. Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy. salvalaggio.a@gmail.com. 2. Padova Neuroscience Center (PNC), University of Padova, Padova, Italy. salvalaggio.a@gmail.com. 3. Neuroriabilitazione Ad Alta Intensità, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. 4. CEMES-EMG Lab, Synlab Group, Padova, Italy. 5. Amyloidosis Research and Treatment Centre, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. 6. Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. 7. Neurology Unit, Fondazione Policlinico Universitario Gemelli IRCCS, Rome, Italy. 8. IRCSS Istituto Scienze Neurologiche Città Di Bologna, Bologna, Italy. 9. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Genova, Italy. 10. Ospedale Policlinico San Martino IRCCS, Genova, Italy. 11. Neurology Unit, Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. 12. Centro Clinico NEMO Adulti, Roma, Italy. 13. Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy. 14. Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia, Brescia, Italy. 15. Department of Scienze Della Salute, University of Genova, Genova, Italy. 16. Department of Geriatrics, Neurosciences and Orthopaedics, Catholic University of the Sacred Heart, Rome, Italy.
Abstract
BACKGROUND: Diagnostic 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. METHODS: Patients 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. RESULTS: Sixty-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). CONCLUSIONS: The 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).
BACKGROUND: Diagnostic 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. METHODS:Patients 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. RESULTS: Sixty-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). CONCLUSIONS: The 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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