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

Neuromuscul Disord. 2000 Jan;10(1):52-5. doi: 10.1016/s0960-8966(99)00062-0.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence / genetics
  • Cardiomyopathies / genetics*
  • Humans
  • Italy
  • Male
  • Mutation / genetics*
  • Pedigree
  • Polyneuropathies / genetics*
  • Polyneuropathies / pathology
  • Prealbumin / genetics*
  • Sural Nerve / pathology

Substances

  • Prealbumin