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

• Motozaki, Yuko

• Sugiyama, Yu

• Ishida, Chiho

• Komai, Kiyonobu

• Matsubara, Shiro

• Yamada, Masahito

Abstract

金沢大学医学部附属病院神経内科

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. © 2007 Elsevier B.V. All rights reserved.

Journal

• Journal of the Neurological Sciences

  Journal of the Neurological Sciences 260 (1-2), 236-239, 2007-09-15

  Elsevier

Keywords

• Carpal tunnel syndrome
• Familial amyloid polyneuropathy
• Mutation
• Transthyretin
• Vitreous opacity

Details

• CRID: 1050001335983823360
• NII Article ID: 120001138906
• ISSN: 0022510X
• Web Site: http://hdl.handle.net/2297/7021
• Text Lang: en
• Article Type: journal article
• Data Source:
  • IRDB
  • CiNii Articles