This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Masamitsu Nakazato, MD, PhD; Masayuki Tanaka, MD; Yoshinori Yamamura, MD; Teruyuki Kurihara, MD, PhD; Shigeru Matsukura, MD, PhD; Kenji Kangawa, PhD; Hisayuki Matsuo, PhD

Arch Neurol. 1987;44(12):1275-1278.

Abstract
• Familial amyloidotic polyneuropathy (FAP) has been biochemically and genetically proven to be an inherited molecular disorder of transthyretin. (The term transthyretin has been suggested by the Nomenclature Committee of the International Union of Biochemistry and the International Union of Pure and Applied Chemistry for the protein that has heretofore been called prealbumin.) We have experienced three cases that included typical clinical, electrophysiologic, and neuropathologic manifestations of FAP, and yet no known family history of the disorder. The patients and members of their families were studied by radioimmunoassay for a variant transthyretin with a methionine-for-valine substitution at position 30. All three patients had the variant transthyretin in the serum, at concentrations of 54.5, 87.9, and 105.9 mg/L (5.45, 8.79, and 10.59 mg/dL). Although parents and siblings had neither neurologic nor electromyographic evidence of FAP, some of these family members had serum concentrations of variant transthyretin as high as those of the propositi. It was from these asymptomatic parents that the "nonfamilial" patients inherited the gene for FAP. Further study is needed to define the mechanisms retarding or preventing, as well as those promoting, the clinical development of FAP when the variant transthyretin is present in the serum at a high level.

Author Affiliations
From the Third Department of Internal Medicine (Drs Nakazato, Tanaka, Yamamura, Kurihara, and Matsukura) and the Department of Biochemistry (Drs Kangawa and Matsuo), Miyazaki (Japan) Medical College.

Footnotes
Accepted for publication July 22, 1987.

Reprint requests to the Third Department of Internal Medicine, Miyazaki Medical College, 5200 Kihara, Kiyotake, Miyazaki 889-16, Japan (Dr Nakazato).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Type I (Transthyretin Met30) Familial Amyloid Polyneuropathy in Japan: Early- vs Late-Onset Form
Koike et al.
Arch Neurol 2002;59:1771-1776.
ABSTRACT | FULL TEXT