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Updated: Apr 19, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Amyloid polyneuropathy caused by wild-type transthyretin
Lynda Lam1, Marta Margeta2, Robert Layzer3
1Department of Neurology, Kaiser Permanente Medical Center, San Rafael, California, USA.
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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