Journal of Shanghai Jiao Tong University (Medical Science) >

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

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

Case report

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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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

Cite this article

Siqi DING , Xiaojun HUANG , Feixia ZHAN , Wotu TIAN , Li CAO . Two cases of hemiplegic migraine caused by ATP1A2 gene mutation[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022 , 42(8) : 1158 -1162 . DOI: 10.3969/j.issn.1674-8115.2022.08.023

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