Amyloid polyneuropathy caused by wild-type transthyretin.

Abstract:

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.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Lam L,Margeta M,Layzer R

doi

10.1002/mus.24563

subject

Has Abstract

pub_date

2015-07-01 00:00:00

pages

146-9

issue

1

eissn

0148-639X

issn

1097-4598

journal_volume

52

pub_type

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