Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: A clinicopathologic study

被引：7

作者：

Motozaki, Yuko ^{[1
]}

Sugiyama, Yu

Ishida, Chiho

Kornai, Kiyonobu

Matsubara, Shiro

Yarnada, Masahito

Yamada, Masahito

机构：

[1] Kanazawa Univ, Grad Sch Med Sci, Dept Neurol & Neurobiol Aging, 13-1 Takara Machi, Kanazawa, Ishikawa 9208641, Japan

[2] Kanazawa Municipal Hosp, Dept Neurol, Kanazawa, Ishikawa 9218105, Japan

[3] Tokyo Metropolitan Neurol Hosp, Dept Neurol, Tokyo 1830042, Japan

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2007年 / 260卷 / 1-2期

关键词：

familial amyloid polyneuropathy; transthyretin; mutation; carpal tunnel syndrome; vitreous opacity;

D O I：

10.1016/j.jns.2007.03.021

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A family with familial amyloid polyneuropathy (FAP) due to a transthyretin (TTR) Leu58Arg mutation was investigated clinicopathologically. The proband presented with sensorimotor-autonomic polyneuropathy and autopsy demonstrated massive amyloid deposition in the peripheral nerves and heart. However, the mother was characterized by carpal tunnel syndrome and ocular vitreous opacities. Thus, there was considerable phenotypic heterogeneity among family members despite the identical TTR genotype. (c) 2007 Elsevier B.V. All rights reserved.

引用

页码：236 / 239

页数：4

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