上海交通大学学报（医学版）

上海交通大学学报（医学版） >

2022 , Vol. 42 >Issue 8: 1158 - 1162

DOI: https://doi.org/10.3969/j.issn.1674-8115.2022.08.023

病例报告

ATP1A2基因突变所致的偏瘫型偏头痛2例报道

  • 丁思奇 ,
  • 黄啸君 ,
  • 詹飞霞 ,
  • 田沃土 ,
  • 曹立
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  • 1.上海交通大学医学院附属第六人民医院神经内科，上海 200233
    2.安徽医科大学附属宿州市立医院神经内科，宿州 234000
    3.上海交通大学医学院附属瑞金医院神经内科，神经病学研究所，上海 200025
丁思奇（1997—），女，硕士生；电子信箱：dingsq@rjlab.cn。
曹 立，电子信箱：caoli2000@yeah.net。

收稿日期: 2022-04-29

  录用日期: 2022-06-06

  网络出版日期: 2022-08-08

基金资助

国家自然科学基金(81870889);上海市教育委员会高峰高原学科建设计划(20161401)

收起

Two cases of hemiplegic migraine caused by ATP1A2 gene mutation

  • Siqi DING ,
  • Xiaojun HUANG ,
  • Feixia ZHAN ,
  • Wotu TIAN ,
  • Li CAO
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  • 1.Department of Neurology, Shanghai Sixth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China
    2.Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou 234000, China
    3.Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
CAO Li, E-mail: caoli2000@yeah.net.

Received date: 2022-04-29

  Accepted date: 2022-06-06

  Online published: 2022-08-08

Supported by

National Natural Science Foundation of China(81870889);Shanghai Municipal Education Commission—Gaofeng Clinical Medicine Grant Support(20161401)

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摘要

2例患者均幼年起病，主要临床表现为视觉障碍（如视觉闪光点）、偏侧肢体无力、麻木，症状持续约30 min后出现单侧搏动性头痛伴有恶心、呕吐，以上症状在休息后可缓解，不伴其他神经系统疾病。神经系统查体、头颅CT、磁共振成像、脑电图检查和遗传代谢疾病筛查均未见异常。根据《国际头痛疾病分类（第三版）》诊断标准，2例患者符合典型单纯偏瘫型偏头痛的诊断。ATP1A2基因检测显示，2例患者均存在ATP1A2基因突变。病例1为杂合突变c.G2284A/p.G762S，该突变此前报道为致病性突变；病例2为杂合突变c.C3022T/p.R1008W，查阅既往文献及数据库未见该位点单独致病的相关报道。根据美国医学遗传学和基因组学会指南，病例1的ATP1A2基因杂合突变c.G2284A/p.G762S评定为“可能致病”，病例2的ATP1A2基因杂合突变c.C3022T/p.R1008W评定为“意义不明确”。

关键词： 偏瘫型偏头痛; ATP1A2基因; 单纯型; 临床特征

本文引用格式

丁思奇 , 黄啸君 , 詹飞霞 , 田沃土 , 曹立 . ATP1A2基因突变所致的偏瘫型偏头痛2例报道[J]. 上海交通大学学报（医学版）, 2022 , 42(8) : 1158 -1162 . DOI: 10.3969/j.issn.1674-8115.2022.08.023

Abstract

Both 2 cases developed hemiplegic migraine at an early age. The clinical manifestations were almost the same, featuring visual disturbance (such as visual flash) and hemiplegia or hemiparesis. A unilateral pulsating headache with nausea and vomiting developed soon after these auras which lasted about half an hour. The headache was relieved after rest. No abnormality was found in the neurological examination, cranial CT, MRI, electroencephalogram and metabolic disease examination. According to The International Classification of Headache Disorders, 3rd edition (ICHD-3) , both 2 cases were presented as typical pure hemiplegic migraine without other neurological disorders. Genetic sequencing showed ATP1A2 gene mutation in the 2 patients. Heterozygous mutation c.G2284A/p.G762S was present in case 1 and it has previously been shown to be a pathogenic mutation. Case 2 was identified with c.C3022T/p.R1008W, and no related reports were found in the previous literature and databases. According to the standard of American College of Medical Genetics and Genomics (ACMG), c.G2284A/p.G762S in case 1 was as "likely pathogenic" and c.C3022T/p.R1008W in case 2 was as "uncertain significance".

Key words： hemiplegic migraine; ATP1A2; pure phenotype; clinical feature

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