Journal
MUSCLE & NERVE
Volume 52, Issue 1, Pages 146-149Publisher
WILEY-BLACKWELL
DOI: 10.1002/mus.24563
Keywords
amyloid polyneuropathy; nerve biopsy; senile systemic amyloidosis; sensorimotor polyneuropathy; wild-type transthyretin amyloidosis
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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 wildtype disease.
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