Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy

Muscle Nerve. 2008 Jun;37(6):796-803. doi: 10.1002/mus.21028.

Abstract

We report an amyloidogenic transthyretin (ATTR) Val30Met homozygote showing extremely early-onset, severe familial amyloid polyneuropathy (FAP). Although homozygotes have been reported to show late-onset and mild clinical manifestations, detailed analyses of the present and previously reported families suggest that homozygotes have a slightly more severe clinical course than heterozygotes. This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation. The clinical severity is consistent with TTR protein instability.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Amyloid / chemistry
  • Amyloid / genetics*
  • Amyloid Neuropathies, Familial / genetics*
  • DNA / chemistry
  • DNA / genetics
  • Female
  • Gene Dosage
  • Homozygote
  • Humans
  • Immunoprecipitation
  • Male
  • Mass Spectrometry
  • Middle Aged
  • Pedigree
  • Phenotype
  • Prealbumin / chemistry
  • Prealbumin / genetics*

Substances

  • Amyloid
  • Prealbumin
  • DNA