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Amyloid polyneuropathy caused by wild-type transthyretin.

AbstractINTRODUCTION:
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.
AuthorsLynda Lam, Marta Margeta, Robert Layzer
JournalMuscle & nerve (Muscle Nerve) Vol. 52 Issue 1 Pg. 146-9 (Jul 2015) ISSN: 1097-4598 [Electronic] United States
PMID25557530 (Publication Type: Case Reports, Journal Article)
Copyright© 2015 Wiley Periodicals, Inc.
Chemical References
  • Amyloid
  • Prealbumin
Topics
  • Aged, 80 and over
  • Amyloid (metabolism)
  • Amyloid Neuropathies (genetics, pathology)
  • Female
  • Humans
  • Muscle, Skeletal (metabolism, pathology)
  • Prealbumin (genetics)

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