Familial amyloid polyneuropathy caused by transthyretin Ala117Ser mutation: a case report and literature review
10.3760/cma.j.cn113694-20201119-00891
- VernacularTitle:转甲状腺素蛋白基因Ala117Ser突变所致家族性淀粉样多发性神经病一例并文献复习
- Author:
Raoli HE
1
;
Xiaodong PAN
;
Jian ZHANG
;
Ying CHEN
;
Qinyong YE
;
Xiaochun CHEN
Author Information
1. 福建医科大学附属协和医院神经内科，福州350001
- Keywords:
Familial amyloid polyneuropathy;
Transthyretin;
Ala117Ser mutation
- From:
Chinese Journal of Neurology
2021;54(8):816-821
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical manifestations of familial amyloid multiple neuropathy (FAP) caused by Ala117Ser mutation, and to improve the clinical recognition of FAP.Methods:The clinical manifestations, electrophysiological examination, pathology and gene mutation characteristics of a case of FAP, who admitted to Fujian Medical University Union Hospital on November 25, 2014, were analyzed, and the literatures on the FAP cases caused by Ala117Ser mutation were reviewed and summarized.Results:The patient was a 59-year-old male from Fujian province. The first symptom was numbness in the extremities, followed by obvious autonomic nerve symptoms and motor disorder, and fatal cardiac dysfunction occurred in the later stage of the disease. The skin biopsy showed amyloidosis, and transthyretin gene analysis indicated the mutation of c.349G>T p.Ala117Ser. The clinical manifestations of FAP caused by Ala117Ser mutation reported in literatures are consistent with this case. And the reported FAP cases in China are concentrated in southern regions such as Fujian Province and Guangdong Province.Conclusions:Ala117Ser mutation in FAP patients is usually late onset and clinically manifested as multiple sensorimotor peripheral neuropathy, accompanied by prominent autonomic symptoms. The distribution of the patients has significant regional characteristics. Histopathological and genetic tests for the clinical diagnosis are of great significance.
