Discordant expression of familial amyloid polyneuropathy in monozygotic Brazilian twins

Mário André Da Cunha Saporta, V. Plante-Bordeneuve, M. Misrahi, M. W. Cruz

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

Discordant expression of Familial Amyloid Neuropathy (FAP) in monozygotic twins is a rare event. Only five such cases have been described in the literature so far. We report the clinical, neurophysiologic and autonomic findings of Brazilian monozygotic twins discordant for the expression of FAP type I. Twin I first presented symptoms at the age of 21, when his brother was completely asymptomatic. Twin 2 only presented symptoms at the age of 25, almost four years after his brother. Both brothers eventually developed the complete phenotype of FAP type I. The occurrence of monozygotic twins discordant for the expression of FAP type I suggests that other factors beside TTR gene mutations should play an important role in the pathogenesis of this condition. Environmental factors, as well as modifier genetic loci are likely to modulate the expression of FAP type I and the study of cases such as the one presented here may help to identify some of these factors.

Original languageEnglish (US)
Pages (from-to)38-41
Number of pages4
JournalAmyloid
Volume16
Issue number1
DOIs
StatePublished - Mar 2009
Externally publishedYes

Keywords

  • Discordant expression
  • Familial amyloid neuropathy
  • Monozygotic twins

ASJC Scopus subject areas

  • Internal Medicine

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