Ando Yukio, Nakamura Masaaki, Araki Shukuro
Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Arch Neurol. 2005 Jul;62(7):1057-62. doi: 10.1001/archneur.62.7.1057.
Transthyretin-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis. Until 20 years ago, FAP was thought to be restricted to endemic occurrence in certain areas. However, owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or double mutations, or a deletion in the transthyretin gene, have been published, and several different phenotypes of FAP have been documented, even for the same mutation in the transthyretin gene. We present herein the current clinicopathological, biochemical, molecular genetic, and epidemiological aspects of transthyretin-related FAP, and we introduce a new diagnostic procedure for the disease.
转甲状腺素蛋白相关家族性淀粉样多神经病（FAP）是一种致命的遗传性淀粉样变性病。直到20年前，FAP还被认为仅限于某些地区的地方性发病。然而，由于生化和分子遗传学分析的进展，现在认为FAP在全球范围内都有发生。截至目前，已经发表了关于转甲状腺素蛋白基因中约100个不同的单突变或双突变位点或缺失的报告，并且已经记录了FAP的几种不同表型，即使是转甲状腺素蛋白基因中的相同突变。我们在此介绍转甲状腺素蛋白相关FAP的当前临床病理、生化、分子遗传和流行病学方面，并介绍一种针对该疾病的新诊断方法。
