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

J Neurol Sci. 2007 Sep 15;260(1-2):236-9. doi: 10.1016/j.jns.2007.03.021. Epub 2007 Apr 26.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amyloid Neuropathies, Familial / complications*
  • Amyloid Neuropathies, Familial / genetics*
  • Amyloid Neuropathies, Familial / physiopathology
  • Brain / metabolism
  • Brain / pathology
  • Brain / physiopathology
  • Carpal Tunnel Syndrome / genetics
  • DNA Mutational Analysis
  • Eye Diseases, Hereditary / genetics
  • Eye Diseases, Hereditary / pathology
  • Eye Diseases, Hereditary / physiopathology
  • Fatal Outcome
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Male
  • Meninges / metabolism
  • Meninges / pathology
  • Meninges / physiopathology
  • Middle Aged
  • Mutation / genetics*
  • Myocardium / metabolism
  • Myocardium / pathology
  • Pedigree
  • Peripheral Nerves / metabolism
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology
  • Phenotype
  • Prealbumin / genetics*
  • Viscera / metabolism
  • Viscera / pathology
  • Viscera / physiopathology
  • Vitreous Body / pathology
  • Vitreous Body / physiopathology

Substances

  • Prealbumin