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Incidence of nonamyloidogenic mutations in the transthyretin gene in patients with autonomic and small fiber neuropathy
Author(s) -
Levine Todd D.,
Bland Ruth J.
Publication year - 2018
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25701
Subject(s) - transthyretin , medicine , polyneuropathy , peripheral neuropathy , mutation , point mutation , nerve fiber , gene , gene mutation , autonomic nervous system , pathology , endocrinology , genetics , biology , anatomy , diabetes mellitus , heart rate , blood pressure
ABSTRACT Introduction : Mutations of the transthyretin ( TTR ) gene have been associated with polyneuropathy; the protein product has a tendency to form amyloid deposits in the peripheral nervous system. Methods : Patients with small fiber neuropathy (SFN) with or without autonomic symptoms were given skin biopsies to assess nerve fiber density. Any patient with autonomic symptoms was assessed for autonomic neuropathy (AN). If testing revealed no clear cause of neuropathy, the TTR gene was sequenced. Results : Thirty‐six percent of patients were found to harbor at least 1 mutation in the TTR gene sequence (variants of unknown significance [VUS]). Of 24 patients diagnosed with SFN, 8% of patients had a point mutation (c76G>A). Of those patients who were diagnosed with both SFN and AN, 68% of patients had a VUS within the TTR gene (c76G>A, c337‐18G>C). Conclusions : The results suggest an association between presumed nonamyloidogenic mutations in the TTR gene and the development of AN and SFN. Muscle Nerve 57 : 140–142, 2017