FAMILIAL AMYLOID POLYNEUROPATHY IN TAIWAN - IDENTIFICATION OF TRANSTHYRETIN VARIANT (LEU(55) -] PRO)

We report a family with familial amyloid polyneuropathy (FAP), showing an early-onset and a fatal outcome before age 30. Transthyretin (TTR) gene analysis showed one point mutation (T --> C change) in the secon d base of codon 55, and the corresponding amino acid substitution of p roline (Pro) for leucine (Leu) was confirmed at the protein level. Thi s is the first FAP family of Taiwanese origin demonstrating a causativ e gene abnormality, and FAP with TTR-Pro(55) was considered to be more serious compared with other forms of FAP. (C) 1994 John Wiley & Sons, Inc.