Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred.
Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred.
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DOI：
10.1093/brain/115.5.1275
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发表时间：
1992-10
期刊：
影响因子：
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通讯作者：
S. Ueno;H. Fujimura;S. Yorifuji;Yusaku Nakamura;M. Takahashi;S. Tarui;Takehiko Yanagihara
中科院分区：
文献类型：
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作者：
S. Ueno;H. Fujimura;S. Yorifuji;Yusaku Nakamura;M. Takahashi;S. Tarui;Takehiko Yanagihara
一个日本家族的显性遗传性淀粉样多发性神经病，通常被称为家族性淀粉样多发性神经病（FAP），已被确定。淀粉样蛋白是甲状腺素运载蛋白（TTR）相关的，患者是编码TTR的突变基因杂合子，在114位酪氨酸被半胱氨酸取代。这个家族起源于日本长崎县，已知的六代36名成员中有12人受到了影响。最初的症状发生在30多岁，主要特征是多发性神经病、玻璃体混浊和心脏病。下肢感觉神经病变严重。自主神经紊乱，特别是体位性低血压，是最衰弱的病人。除中枢神经系统外，在大多数器官中广泛检测到淀粉样沉积。从发病到死亡的时间在10年以内，由大量淀粉样蛋白沉积引起的心力衰竭是最常见的猝死原因。
A Japanese kindred with dominantly inherited amyloid polyneuropathy, commonly called familial amyloid polyneuropathy (FAP), has been identified. Amyloid protein was transthyretin (TTR) related and the patients were heterozygous for the mutant gene encoding TTR with a single amino acid substitution of cysteine for tyrosine at position 114. This family originated in Nagasaki Prefecture, Japan, and 12 of the 36 known members of six generations have been affected. The initial symptoms occurred in their thirties with the cardinal features of polyneuropathy, vitreous opacities and cardiac disease. Sensory neuropathy was severe in the lower limbs. Autonomic disturbances, especially postural hypotension, were the most debilitating to the patients. Amyloid deposits were detected widely in most organs except for the central nervous system. The duration from the onset of the disease to death was within 10 yrs. Heart failure caused by heavy amyloid deposits was the most common cause of sudden death.