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

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:260

Article

Motozaki, Yuko ; Sugiyama, Yu ; Ishida, Chiho ; Kornai, Kiyonobu ; Matsubara, Shiro ; Yarnada, Masahito ; Yamada, Masahito

关键词: familial amyloid polyneuropathy;    transthyretin;    mutation;    carpal tunnel syndrome;    vitreous opacity;   

DOI  :  10.1016/j.jns.2007.03.021

来源: Elsevier

【 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.

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