Transthyretin related familial amyloid polyneuropathy

Curr Opin Neurol. 2000 Oct;13(5):569-73. doi: 10.1097/00019052-200010000-00011.

Abstract

Familial amyloid polyneuropathy (FAP) applies to a group of dominantly inherited severe diseases with endoneurial and polyvisceral deposition of amyloidosis. The transthyretin, essentially produced by the liver, is the main protein involved in FAP. Up to 80 different mutations of the transthyretin gene are identified, many of them being associated with small fibres sensory-motor and autonomic polyneuropathy and/or cardiomyopathy. Variable age of onset, clinical expression and penetrance are largely reported. However, phenotypic-genotypic correlations remain unclear and the genetic or environmental modifying factors are unknown. The liver transplantation is proposed as a curative treatment of FAP resulting in an improvement of the general condition and a stabilization of the neuropathy, in a majority of patients. At present, the ratio benefit/risk seems acceptable when the procedure is performed early in the course of the disease.

Publication types

  • Review

MeSH terms

  • Amyloid Neuropathies / diagnosis
  • Amyloid Neuropathies / genetics*
  • Amyloid Neuropathies / physiopathology
  • Amyloid Neuropathies / therapy
  • Gene Frequency
  • Humans
  • Molecular Biology
  • Prealbumin / genetics*

Substances

  • Prealbumin