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Updated: Jul 11, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Gastrointestinal amyloidosis associated with transthyretin Phe64Ser mutation
Amir Said Alizadeh Naderi1, Farnas Nematollah Farsian, Peter Igarashi
1Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390-8837, USA. ANADER@parknet.pmh.org
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.
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