Zhang LW, Liu B, Peng DT. Clinical and genetic study of ataxia with vitamin E deficiency: A case report. World J Clin Cases 2022; 10(23): 8271-8276 [PMID: 36159513 DOI: 10.12998/wjcc.v10.i23.8271]
Corresponding Author of This Article
Dan-Tao Peng, MD, Chief Doctor, Department of Neurology, China-Japan Friendship Hospital, No. 2 Yinghua East Street, Chaoyang District, Beijing 100029, China. pengdt2000@126.com
Research Domain of This Article
Clinical Neurology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Aug 16, 2022; 10(23): 8271-8276 Published online Aug 16, 2022. doi: 10.12998/wjcc.v10.i23.8271
Clinical and genetic study of ataxia with vitamin E deficiency: A case report
Lin-Wei Zhang, Bing Liu, Dan-Tao Peng
Lin-Wei Zhang, Dan-Tao Peng, Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, China
Bing Liu, Department of Radiology, China-Japan Friendship Hospital, Beijing 100029, China
Author contributions: Zhang LW contributed to acquisition of data, carried out the molecular genetic studies, analyzed the molecular and clinical data, wrote the main manuscript text and prepared figures; Liu B collected data during the study; Peng DT critically revised the manuscript for important intellectual content and supervised the study; All authors read and approved the manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Dan-Tao Peng, MD, Chief Doctor, Department of Neurology, China-Japan Friendship Hospital, No. 2 Yinghua East Street, Chaoyang District, Beijing 100029, China. pengdt2000@126.com
Received: January 20, 2022 Peer-review started: January 20, 2022 First decision: May 11, 2022 Revised: May 23, 2022 Accepted: July 11, 2022 Article in press: July 11, 2022 Published online: August 16, 2022 Processing time: 193 Days and 3.1 Hours
Abstract
BACKGROUND
Ataxia with vitamin E deficiency (AVED) is a type of autosomal recessive cerebellar ataxia. Clinical manifestations include progressive cerebellar ataxia and movement disorders. TTPA gene mutations cause the disease.
CASE SUMMARY
We report the case of a 32-year-old woman who presented with progressive cerebellar ataxia, dysarthria, dystonic tremors and a remarkably decreased serum vitamin E concentration. Brain magnetic resonance images showed that her brainstem and cerebellum were within normal limits. Acquired causes of ataxia were excluded. Whole exome sequencing subsequently identified a novel homozygous variant (c.473T>C, p.F158S) of the TPPA gene. Bioinformatic analysis predicted that F185S is harmful to protein function. After supplementing the patient with vitamin E 400 mg three times per day for 2 years, her symptoms remained stable.
CONCLUSION
We identified an AVED patient caused by novel mutation in TTPA gene. Our findings widen the known TTPA gene mutation spectrum.
Core Tip: Ataxia with vitamin E deficiency can present as progressive chronic cerebellar ataxia and involuntary movement disorder. Vitamin E supplementation should be initiated as early as possible to stop disease progression.
