title: Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study.
abstract: A family with familial amyloid polyneuropathy (FAP) due to a transthyretin (TTR) Leu58Arg mutation was investigated clinicopathologically. The proband presented with sensorimotor-autonomic polyneuropathy and autopsy demonstrated massive amyloid deposition in the peripheral nerves and heart. However, the mother was characterized by carpal tunnel syndrome and ocular vitreous opacities. Thus, there was considerable phenotypic heterogeneity among family members despite the identical TTR genotype.
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa 920-8641, Japan. yukokato@med.kanazawa-u.ac.jp
authors.forename: Yuko
authors.initials: Y
authors.lastname: Motozaki
authors.forename: Yu
authors.initials: Y
authors.lastname: Sugiyama
authors.forename: Chiho
authors.initials: C
authors.lastname: Ishida
authors.forename: Kiyonobu
authors.initials: K
authors.lastname: Komai
authors.forename: Shiro
authors.initials: S
authors.lastname: Matsubara
authors.forename: Masahito
authors.initials: M
authors.lastname: Yamada
mesh_terms: D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002349:Carpal Tunnel Syndrome / Q000235:genetics; D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008578:Meninges / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D011228:Prealbumin / Q000235:genetics*; D014781:Viscera / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D014822:Vitreous Body / Q000473:pathology / Q000503:physiopathology
chemical_list: D011228:Prealbumin