title: Ultrasound evaluation in transthyretin-related amyloid neuropathy.
abstract: BACKGROUND
  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.
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Largo F. Vito 1, 00168, Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Granata
authors.forename: Marco
authors.initials: M
authors.lastname: Luigetti
authors.forename: Daniele
authors.initials: D
authors.lastname: Coraci
authors.forename: Alessandra
authors.initials: A
authors.lastname: Del Grande
authors.forename: Angela
authors.initials: A
authors.lastname: Romano
authors.forename: Giulia
authors.initials: G
authors.lastname: Bisogni
authors.forename: Placido
authors.initials: P
authors.lastname: Bramanti
authors.forename: Paolo Maria
authors.initials: PM
authors.lastname: Rossini
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
authors.forename: Luca
authors.initials: L
authors.lastname: Padua
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000328:Adult; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000000981:diagnostic imaging* / Q000235:genetics*; D015331:Cohort Studies; D004576:Electromyography; D005260:Female; D006579:Heterozygote; D006801:Humans; D035002:Lower Extremity / Q000000981:diagnostic imaging / Q000294:innervation / Q000503:physiopathology; D008297:Male; D008475:Median Nerve / Q000000981:diagnostic imaging / Q000473:pathology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009431:Neural Conduction; D009460:Neurologic Examination; D010523:Peripheral Nervous System Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D014459:Ulnar Nerve / Q000000981:diagnostic imaging / Q000473:pathology; D014463:Ultrasonography
keywords: amyloid; neurophysiology; peripheral neuropathy; transthyretin (TTR); ultrasound