Transthyretin-related familial amyloidotic polyneuropathy

被引：316

作者：

Ando, Y ^{[1
]}

Nakamura, M ^{[1
]}

Araki, S ^{[1
]}

机构：

[1] Kumamoto Univ, Grad Sch Med Sci, Dept Diagnost Med, Kumamoto, Japan

来源：

ARCHIVES OF NEUROLOGY | 2005年 / 62卷 / 07期

关键词：

D O I：

10.1001/archneur.62.7.1057

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1057 / 1062

页数：6

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