Todd D Levine1, Ruth J Bland1. 1. Phoenix Neurological Associates, 5090 N 40th St #250, Phoenix, Arizona, 85018, USA.
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.
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.
Authors: Andreas Thimm; Saskia Bolz; Michael Fleischer; Benjamin Stolte; Sebastian Wurthmann; Andreas Totzeck; Alexander Carpinteiro; Peter Luedike; Maria Papathanasiou; Christoph Rischpler; Ken Herrmann; Tienush Rassaf; Lars Steinmüller-Magin; Christoph Kleinschnitz; Tim Hagenacker Journal: Neurol Res Pract Date: 2019-09-18
Authors: Antonella De Lillo; Gita A Pathak; Flavio De Angelis; Marco Di Girolamo; Marco Luigetti; Mario Sabatelli; Federico Perfetto; Sabrina Frusconi; Dario Manfellotto; Maria Fuciarelli; Renato Polimanti Journal: Clin Epigenetics Date: 2020-11-17 Impact factor: 6.551