Early onset aggressive hereditary amyloidosis: Report of an Italian family with TTR Arg47 mutation

Fabrizio Salvi, F. Pastorelli, R. Plasmati, A. Ferlini, G. L. Grazi, E. Jovine, M. Mascalchi, C. A. Tassinari

Research output: Contribution to journalArticlepeer-review

Abstract

Arg47 is a rare transthyretin-related (TTR) amyloidosis variant that is characterised by polyneuropathy and autonomic failure. We describe an Italian family with this mutation whose members (two women and their father) showed a rapid progression of the peripheral nervous system involvement and died within 5 years of clinical onset. Patients with Arg47 or other aggressive TTR amyloidoses should be considered high priority patients for orthotopic liver transplantation.

Original languageEnglish
Pages (from-to)140-142
Number of pages3
JournalNeurological Sciences
Volume26
Issue number2
DOIs
Publication statusPublished - Jun 2005

Keywords

  • Amyloidoses
  • Polyneuropathy
  • Transthyretin

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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