Abstract

The c.161G>C was first detected in China and related to pure peripheral neuropathies, which is different from the first case reported in an Italy family featured by peripheral neuropathies with restrictive cardiomyopathy. Besides the reported phenotype of late-onset axonal polyneuropathy with prominent pain and autonomic dysfunction, our patients bearing c.165G>C also exhibited renal failure and vitreous opacity. [...]routine TTR screening is needed in IPN patients. Funding This study was supported by grants from the National Natural Science Foundation of China (No. 81771366), the Hunan Provincial Natural Science Foundation of China (No. 2017JJ2365), the Science Foundation of Health and Family Planning Commission of Hunan Province (No.

Details

Title
Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China
Author
Liu, Lei 1 ; Xiao-Bo, Li 2 ; Zheng-Mao, Hu 3 ; Shun-Xiang, Huang 2 ; Bei-Sha, Tang 4 ; Ru-Xu, Zhang 2 

 Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, China;; Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, China; 
 Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, China; 
 Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410013, China; 
 National Clinical Research Center for Geriatric Disorders, Changsha, Hunan 410008, China 
Pages
2616-2618
Section
Clinical Observations
Publication year
2020
Publication date
Nov 2020
Publisher
Lippincott Williams & Wilkins Ovid Technologies
ISSN
03666999
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2480943707
Copyright
Copyright © 2020 The Chinese Medical Association, produced by Wolters Kluwer, Inc. under the CC-BY-NC-ND license. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.