Ultrasound evaluation in transthyretin-related amyloid neuropathy

Mario Sabatelli, Luca Padua, Giuseppe Granata, Marco Luigetti, Paolo Maria Rossini, Daniele Coraci, Placido Bramanti

Risultato della ricerca: Contributo in rivistaArticolo in rivista

18 Citazioni (Scopus)

Abstract

ntroduction: Familial amyloid polyneuropathy is a rare condition caused by mutations of the transthyretin (TTR) gene. 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 6/7 TTR-N. 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. Discussion: 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.
Lingua originaleEnglish
pagine (da-a)372-376
Numero di pagine5
RivistaMUSCLE & NERVE
Volume50
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • amyloid
  • neurophysiology
  • peripheral neuropathy
  • transthyretin (TTR)
  • ultrasound

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