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Ultrasound evaluation in transthyretin‐related amyloid neuropathy
Author(s) -
Granata Giuseppe,
Luigetti Marco,
Coraci Daniele,
Del Grande Alessandra,
Romano Angela,
Bisogni Giulia,
Bramanti Placido,
Rossini Paolo Maria,
Sabatelli Mario,
Padua Luca
Publication year - 2014
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24168
Subject(s) - transthyretin , medicine , polyneuropathy , asymptomatic , amyloidosis , amyloid (mycology) , pathology , peripheral neuropathy , disease , endocrinology , diabetes mellitus
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. Muscle Nerve 50 : 372–376, 2014