Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy.
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.
Nanri
Kazunori
K
Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Japan. nanri@qd5.so-net.ne.jp
Utsumi
Hiroya
H
Yamada
Masahito
M
Takata
Yoshifumi
Y
Matsumura
Atsushi
A
Kougo
Kazusa
K
Sekine
Shigeo
S
Ogawa
Daisaku
D
Toyoda
Mitsuyasu
M
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
D011228:Prealbumin