Libbey C A, Rubinow A, Shirahama T, Deal C, Cohen A S
Am J Med. 1984 Jan;76(1):18-24. doi: 10.1016/0002-9343(84)90739-3.
A family with autosomal dominant transmitted familial amyloid polyneuropathy residing in Texas is described. Clinically, the prominent sensory and severe autonomic nervous system involvement resembles the Andrade (Portuguese) type I familial amyloid polyneuropathy but is unique in that the age of onset is in the seventh decade in all family members affected to date. Using an immunoperoxidase technique, prealbumin was demonstrated in the amyloid deposits. This finding suggests that this family shares biochemical as well as clinical characteristics consistent with similar kinships with type I familial amyloid polyneuropathy of diverse geographic origin.
本文描述了一个居住在德克萨斯州的常染色体显性遗传家族性淀粉样多神经病家族。临床上,显著的感觉神经和严重的自主神经系统受累类似于安德拉德(葡萄牙)I型家族性淀粉样多神经病,但独特之处在于,迄今为止所有受影响家族成员的发病年龄均在七十岁左右。使用免疫过氧化物酶技术,在淀粉样沉积物中证实了前白蛋白的存在。这一发现表明,该家族在生化及临床特征方面与来自不同地理区域的I型家族性淀粉样多神经病的类似家族具有一致性。