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Muscle Nerve. 2014 Sep;50(3):372-6. doi: 10.1002/mus.24168. Epub 2014 Jun 16.

Ultrasound evaluation in transthyretin-related amyloid neuropathy.

Author information

1
Institute of Neurology, Catholic University of Sacred Heart, Largo F. Vito 1, 00168, Rome, Italy.

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.

KEYWORDS:

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

PMID:
24395461
DOI:
10.1002/mus.24168
[Indexed for MEDLINE]

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