Nakazato M, Tanaka M, Yamamura Y, Kurihara T, Matsukura S, Kangawa K, Matsuo H
Third Department of Internal Medicine, Miyazaki Medical College, Japan.
Arch Neurol. 1987 Dec;44(12):1275-8. doi: 10.1001/archneur.1987.00520240053011.
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.
家族性淀粉样多神经病（FAP）已在生物化学和遗传学上被证实是一种转甲状腺素蛋白的遗传性分子疾病。（转甲状腺素蛋白这个术语是由国际生物化学联盟和国际纯粹与应用化学联合会的命名委员会为迄今被称为前白蛋白的蛋白质所提议的。）我们遇到了三例具有FAP典型临床、电生理和神经病理学表现但无该疾病已知家族史的病例。通过放射免疫分析法对患者及其家庭成员进行了研究，以检测在第30位缬氨酸被甲硫氨酸取代的转甲状腺素蛋白变体。所有三名患者血清中均有该变体转甲状腺素蛋白，浓度分别为54.5、87.9和105.9 mg/L（5.45、8.79和10.59 mg/dL）。尽管父母和兄弟姐妹既无FAP的神经学证据也无肌电图证据，但其中一些家庭成员血清中变体转甲状腺素蛋白的浓度与先证者一样高。正是从这些无症状的父母那里，“非家族性”患者遗传了FAP基因。当血清中存在高水平的变体转甲状腺素蛋白时，需要进一步研究来确定延缓或预防以及促进FAP临床发展的机制。
