Clinical variant of familial amyloid polyneuropathy

Muscle Nerve. 2002 Sep;26(3):417-20. doi: 10.1002/mus.10208.

Abstract

Hereditary amyloidosis with early and prominent peripheral nerve involvement is often designated familial amyloid polyneuropathy (FAP). The abnormality usually lies in the transthyretin (TTR) gene. We describe a patient with a tyr77 TTR gene mutation who presented with sensorimotor polyneuropathy but no other systemic symptoms of amyloidosis. This is one of a few documented cases of the tyr77 mutation in North America. The clinical and electrophysiologic features of this unusual cause of sensorimotor polyneuropathy are discussed.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amyloid Neuropathies, Familial / diagnosis
  • Amyloid Neuropathies, Familial / genetics*
  • Carpal Tunnel Syndrome / diagnosis
  • Carpal Tunnel Syndrome / genetics
  • Female
  • Humans
  • Neural Conduction
  • North America
  • Point Mutation*
  • Prealbumin / genetics*

Substances

  • Prealbumin