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ORIGINAL RESEARCH article
Front. Neurol.
Sec. Neurogenetics
Volume 15 - 2024 |
doi: 10.3389/fneur.2024.1471131
The Gly103Arg variant in hereditary transthyretin amyloidosis
Provisionally accepted- 1 The Second Clinical Medical College, Jinan University, Shen zhen, China
- 2 School of Medicine, Southern University of Science and Technology, Shenzhen, China
- 3 Department of Respiratory and Critical Medicine, Shenzhen People's Hospital, Jinan University, Shenzhen, China
- 4 Department of Neurology, Shenzhen People's Hospital, Jinan University, Shenzhen, Guangdong Province, China
Background: Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant inherited systematic disease primarily affecting the peripheral and autonomic nervous system, heart, eyes and kidney. Over 140 variants have been identified worldwide, with the Gly103Arg variant reported exclusively in China. This variant is characterized by early onset eye manifestations, making accurate and timely diagnosis difficult. Therefore, we conducted a case study and literature review to investigate the clinical characteristics of the Gly103Arg variant in hereditary transthyretin amyloidosis. Methods: We identified three patients and an asymptomatic carrier in a four-generation family by sequencing the TTR gene. The proband underwent a lumbar puncture, electromyography, abdominal fat biopsy, among other tests. Case reports of Gly103Arg variant were retrieved through a literature search for an analysis of clinical characteristics.The study included clinical data of 44 patients. Our literature review collected data on 41 patients and the present report supplied 3 patients with the Gly103Arg variant. The mean age at onset was 39.1±4.27 years (range 30-47 years) with a female ratio of 52.3%. All cases were reported in China, predominantly in southern regions, especially Yunan and Guizhou Provinces. The initial manifestation was blurred vision, except for one case presenting with numbness in the upper extremities. All of them had vitreous opacity; 17 cases had peripheral neuropathy,6 cases had autonomic neuropathy, and 3 cases had cardiopathy. No disease-related deaths have been reported to date. Conclusions: The Gly103Arg variant is unique to the Chinese population, frequently occurring in southern China. The main clinical manifestations are blurred vision, vitreous opacity, and neuropathy, with cardiopathy being rare. ATTRv should be considered if a patient diagnosed with CIDP does not respond to related therapy. Abdominal fat biopsy is a convenient and accurate diagnostic method.
Keywords: hereditary transthyretin amyloidosis, p.G103R variant, peripheral neuropathy, Vitreous opacity, Chinese population
Received: 26 Jul 2024; Accepted: 29 Aug 2024.
Copyright: © 2024 Xiong, Qu, Lu, Chang, Zhang, Liang, Lin, Zhao, Fu, Huang and Xu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Xiaoyu Lu, Department of Respiratory and Critical Medicine, Shenzhen People's Hospital, Jinan University, Shenzhen, 518020, China
Xin Chang, Department of Neurology, Shenzhen People's Hospital, Jinan University, Shenzhen, 518000, Guangdong Province, China
Miaoping Zhang, Department of Neurology, Shenzhen People's Hospital, Jinan University, Shenzhen, 518000, Guangdong Province, China
Jiantang Liang, Department of Neurology, Shenzhen People's Hospital, Jinan University, Shenzhen, 518000, Guangdong Province, China
Kexing Lin, Department of Neurology, Shenzhen People's Hospital, Jinan University, Shenzhen, 518000, Guangdong Province, China
Xiaoman Zhao, School of Medicine, Southern University of Science and Technology, Shenzhen, 518055, China
Xuejun Fu, Department of Neurology, Shenzhen People's Hospital, Jinan University, Shenzhen, 518000, Guangdong Province, China
Ying Huang, Department of Neurology, Shenzhen People's Hospital, Jinan University, Shenzhen, 518000, Guangdong Province, China
Qianhui Xu, Department of Neurology, Shenzhen People's Hospital, Jinan University, Shenzhen, 518000, Guangdong Province, China
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