title: Homozygosity for the transthyretin-Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy.
abstract: We report the cases of three siblings homozygous for a mutated transthyretin (TTR) gene that causes type I familial amyloidotic polyneuropathy (FAP), in whom we made the diagnosis by identifying both the mutated TTR gene and a variant TTR in their sera. Their serum levels for the variant TTR are twice those of patients heterozygous for the gene, but two have late-onset FAP and the third is an elderly asymptomatic carrier. TTR abnormality is a necessary condition for the development of FAP, but there may be other factors that retard or prevent its clinical development.
authors.affiliation: Department of Internal Medicine, Ishikawa Prefectural Central Hospital, Kanazawa, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yoshinaga
authors.forename: M
authors.initials: M
authors.lastname: Nakazato
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
authors.forename: A
authors.initials: A
authors.lastname: Ohnishi
mesh_terms: D000368:Aged; D000682:Amyloid / Q000235:genetics* / Q000378:metabolism; D000686:Amyloidosis / Q000097:blood / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D004247:DNA / Q000032:analysis; D005260:Female; D005796:Genes; D006720:Homozygote; D006801:Humans; D008297:Male; D015335:Molecular Probes / Q000235:genetics; D009154:Mutation; D009422:Nervous System Diseases / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics* / Q000378:metabolism
chemical_list: D000682:Amyloid; D015335:Molecular Probes; D011228:Prealbumin; C041120:amyloid prealbumin; D004247:DNA