Clinical Neurology: Research Article

He S.a· Gou D.a· Yuan M.a· Guo J.b· Lv X.a· Liu Z.a· Ma X.a,c· Han Y.d

Author affiliations

aDepartment of Neurology, The First Hospital of Hebei Medical University, Shijiazhuang, China
bDepartment of Neuroelectrophysiology, The First Hospital of Hebei Medical University, Shijiazhuang, China
cBrain Aging and Cognitive Neuroscience Laboratory of Hebei Province, The First Hospital of Hebei Medical University, Shijiazhuang, China
dDepartment of Internal Medicine, The First Hospital of Hebei Medical University, Shijiazhuang, China

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Article / Publication Details

First-Page Preview

Received: February 23, 2022
Accepted: June 06, 2022
Published online: July 13, 2022

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 3

ISSN: 0014-3022 (Print)
eISSN: 1421-9913 (Online)

For additional information: https://www.karger.com/ENE

Abstract

Introduction: Familial amyloid polyneuropathy is currently prevalent worldwide as the transthyretin (TTR) Val30Met mutation, and there are other types of mutations. The purpose of this study was to understand the clinical manifestations, electrophysiological characteristics, and outcomes of hormone-related therapy in patients with the TTR Val30Leu mutation in China. Methods: Clinical data were collected from 9 members of a family with the TTR Val30Leu mutation in China, and blood samples of 7 members of the family were sequenced. The electrophysiological examinations of 4 of them were collected and analysed. Results: A total of 7 people had the TTR gene c.148G>T missense mutation and the TTR protein Val30Leu mutation in this family, and the positive members all had similar symptoms, such as limb paraesthesia and gastrointestinal symptoms. In addition, electrophysiological examination showed abnormal nerve conduction velocity in all 4 patients. Conclusions: The clinical manifestations of this mutation involve mainly limb sensory or motor disorders or gastrointestinal symptoms or both, and the electrophysiological examination shows neurogenic damage.

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First-Page Preview

Received: February 23, 2022
Accepted: June 06, 2022
Published online: July 13, 2022

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 3

ISSN: 0014-3022 (Print)
eISSN: 1421-9913 (Online)

For additional information: https://www.karger.com/ENE

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