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 originale | English |
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pagine (da-a) | 372-376 |
Numero di pagine | 5 |
Rivista | MUSCLE & NERVE |
Volume | 50 |
DOI | |
Stato di pubblicazione | Pubblicato - 2014 |
Keywords
- amyloid
- neurophysiology
- peripheral neuropathy
- transthyretin (TTR)
- ultrasound