Ultrasound evaluation in transthyretin-related amyloid neuropathy

Giuseppe Granata, Marco Luigetti, Daniele Coraci, Alessandra Del Grande, Angela Romano, Giulia Bisogni, Placido Bramanti, Paolo Maria Rossini, Mario Sabatelli, Luca Padua

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: Familial amyloid polyneuropathy is a rare condition caused by mutations of the transthyretin gene (TTR). We assessed the pattern of nerve ultrasound (US) abnormalities in patients with TTR-related neuropathy. Methods: Seven patients with TTR-related neuropathy (TTR-N) and 5 asymptomatic TTR-mutation carriers (TTR-C) underwent neurological examination, nerve conduction studies, and US evaluation. Results: Multifocal US abnormalities were identified in 6 of 7 TTR-N patients. A single patient with only a mild sensory polyneuropathy had normal nerves on US evaluation. In the TTR-C, we only detected an enlarged ulnar nerve at the elbow. Interestingly, disease severity correlated with number of nerves affected on US evaluation. Conclusions: No specific pattern of US abnormalities was identified in this cohort. However, in TTR-related amyloid neuropathy, US may be a helpful tool in monitoring disease progression, and/or clinical response to pharmacological treatment.

Original languageEnglish
Pages (from-to)372-376
Number of pages5
JournalMuscle and Nerve
Volume50
Issue number3
DOIs
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

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