Transthyretin amyloidosis presenting with multifocal demyelinating mononeuropathies

Muscle Nerve. 2004 Feb;29(2):318-22. doi: 10.1002/mus.10614.


We describe a patient with transthyretin amyloidosis who presented with multifocal mononeuropathies with features of demyelination on nerve conduction studies, a constellation of findings not previously described in amyloid polyneuropathy. Genetic testing revealed a valine122isoleucine mutation in the coding region of the transthyretin gene, a mutation that generally presents with late-onset cardiac amyloidosis. Our patient was also unusual in that she was 34 years old at the time of presentation and had no cardiac involvement.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amyloidosis / diagnosis*
  • Amyloidosis / genetics
  • Demyelinating Diseases / diagnosis*
  • Demyelinating Diseases / genetics
  • Diagnosis, Differential
  • Female
  • Humans
  • Mononeuropathies / diagnosis*
  • Mononeuropathies / genetics
  • Mutation / genetics
  • Prealbumin / genetics*


  • Prealbumin