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Open Access Publications from the University of California

Amyloid polyneuropathy caused by wild-type transthyretin.

  • Author(s): Lam, Lynda
  • Margeta, Marta
  • Layzer, Robert
  • et al.

Published Web Location Commons 'BY' version 4.0 license

INTRODUCTION: Amyloidosis derived from transthyretin (TTR) molecules is typically caused by mutations of the TTR gene. METHODS: We describe an elderly patient with a severe length-dependent polyneuropathy that unexpectedly proved to be caused by wild-type transthyretin amyloidosis. RESULTS: The diagnosis was made by muscle biopsy, because no amyloid deposits were found in the biopsied nerve segment. Most cases of wild-type transthyretin amyloidosis occur in elderly patients with cardiomyopathy, but a few cases of polyneuropathy have been reported. CONCLUSIONS: This entity is especially noteworthy in light of emerging treatment options for hereditary transthyretin amyloidosis, which are likely to also be beneficial in wild-type disease.

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