Gastrointestinal amyloidosis associated with transthyretin Phe64Ser mutation

Amir Said Alizadeh Naderi, Farnas Nematollah Farsian, Peter Igarashi

Research output: Contribution to journalArticle

Abstract

Familial amyloidotic polyneuropathy (FAP) is a hereditary generalized amyloidosis that results from mutations in the transthyretin (TTR) gene. More then 100 mutations of TTR have been described. Corresponding to the wide variety of TTR mutations, FAP presents with diverse clinical phenotypes. TTR-Phe64Ser is a rare mutation that has previously only been described once in a Canadian family that presented with oculoleptomeningeal symptoms. We report the clinical and molecular characterization of the first described case of a TTR-Phe64Ser mutation in an African-American family with profound gastrointestinal symptoms.

Original languageEnglish (US)
Pages (from-to)219-221
Number of pages3
JournalAmerican Journal of the Medical Sciences
Volume334
Issue number3
DOIs
StatePublished - Sep 1 2007

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Keywords

  • Familial amyloidotic polyneuropathy
  • Gastrointestinal symptoms
  • Phe64Ser mutation
  • Transthyretin

ASJC Scopus subject areas

  • Medicine(all)

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