An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy

C. Solaro, A. Schenone, A. Di Sapio, L. Pradotto, G. L. Mancardi, A. Primavera, A. Mauro

Research output: Contribution to journalArticle

Abstract

We describe two Italian first cousins with familial amyloidotic polyneuropathy associated with transthyretin variant consisting of the substitution of alanine for glycine at codon 47 (TTR Ala-47), from a family with a history of cardiac failure. The 40-year-old patient presented with autonomic dysfunction and the 44-year-old cousin with congestive heart failure. Both developed sensorimotor and autonomic polyneuropathy. Since a similar clinical picture has been described in another Italian family, the cardiac involvement must be regarded as a salient and early feature of the TTR Ala-47 mutation. Copyright (C) 2000 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)52-55
Number of pages4
JournalNeuromuscular Disorders
Volume10
Issue number1
DOIs
Publication statusPublished - Jan 1 2000

Keywords

  • Cardiomyopathy
  • Familial amyloidotic polyneuropathy
  • Italian family

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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