Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy

Nanri, Kazunori; Utsumi, Hiroya; Yamada, Masahito; Takata, Yoshifumi; Matsumura, Atsushi; Kougo, Kazusa; Sekine, Shigeo; Ogawa, Daisaku; Toyoda, Mitsuyasu

« Previous Next »Journal of the Neurological Sciences
Volume 198, Issue 1 , Pages 93-96, 15 June 2002

Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy

Kazunori Nanri
- Corresponding author. Fax: +81-3-5381-6653
- Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
Hiroya Utsumi
- Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
Masahito Yamada
- Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640 Japan
Yoshifumi Takata
- Second Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
Atsushi Matsumura
- Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
Kazusa Kougo
- Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
Shigeo Sekine
- Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
Daisaku Ogawa
- Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
Mitsuyasu Toyoda
- Department of Surgical Pathology, Tokyo Medical University, 6-7-1 Nishinshinjuku, Shinjuku, Tokyo 160-0023 Japan

Received 12 December 2001; accepted 25 February 2002.

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.

Keywords: Familial amyloid polyneuropathy, Transthyretin, Cardiomyopathy, Carpal tunnel syndrome, Bulbar palsy, Dysphonia