title: Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy.
abstract: A 70-year-old Japanese man with amyloid polyneuropathy associated with a Val 107 transthyretin (TTR) mutation is reported. The patient presented with carpal tunnel syndrome, cardiomyopathy, bulbar palsy, dysphonia and polyneuropathy. DNA analysis of the TTR gene revealed a point mutation responsible for substitution of valine for isoleucine at position 107 of the TTR molecule. Taken together with reports of patients with the same TTR variant, Val 107 TTR mutation is probably associated with a clinical phenotype characterized by carpal tunnel syndrome, cardiomyopathy, bulbar palsy and dysphonia. This case implies a worldwide distribution of the Val 107 TTR mutation with a common clinical phenotype, despite different ethnic background.
authors.affiliation: Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Japan. nanri@qd5.so-net.ne.jp
authors.forename: Kazunori
authors.initials: K
authors.lastname: Nanri
authors.forename: Hiroya
authors.initials: H
authors.lastname: Utsumi
authors.forename: Masahito
authors.initials: M
authors.lastname: Yamada
authors.forename: Yoshifumi
authors.initials: Y
authors.lastname: Takata
authors.forename: Atsushi
authors.initials: A
authors.lastname: Matsumura
authors.forename: Kazusa
authors.initials: K
authors.lastname: Kougo
authors.forename: Shigeo
authors.initials: S
authors.lastname: Sekine
authors.forename: Daisaku
authors.initials: D
authors.lastname: Ogawa
authors.forename: Mitsuyasu
authors.initials: M
authors.lastname: Toyoda
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D028227:Amyloid Neuropathies, Familial / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D010244:Bulbar Palsy, Progressive / Q000150:complications / Q000473:pathology; D009202:Cardiomyopathies / Q000150:complications / Q000000981:diagnostic imaging; D002349:Carpal Tunnel Syndrome / Q000150:complications / Q000473:pathology; D004452:Echocardiography; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics; D011228:Prealbumin / Q000235:genetics*; D014832:Voice Disorders / Q000150:complications / Q000503:physiopathology
chemical_list: D011228:Prealbumin