FAMILIAL AMYLOID POLYNEUROPATHY RELATED TO TRANSTHYRETIN MUTATION VAL30 TO LEU IN A JAPANESE FAMILY

A rare variant transthyretin that has a leucine-for-valine substitutio n at position 30 was reported in a sporadic case of type 1 familiar am yloid polyneuropathy (FAP). We found the same substitution in members of a Japanese family with FAP. Three individuals in this family had a guanine-to-cytosine mutation at the first base of codon 30 in exon 2. This family shows a direct link between a valine-to-leucine substituti on at position 30 and type 1 FAP. (C) 1998 John Wiley & Sons, Inc.