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ATP1A2 유전자 변이를 보인 산발반신마비 편두통

Sporadic Hemiplegic Migraine Presenting ATP1A2 Mutation in Korea

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초록

Hemiplegic migraine (HM) is a rare form of migraine, characterized by migraine with reversible motor weakness. HM can be divided into sporadic and familiar HM based on familiarity. Mutations in CACNA1A, ATP1A2 and SCN1A were identified in familiar HM. We present a patient with sporadic HM exhibiting recurrent hemiplegia, mental change and fever along with headache attacks. During the hemiplegia, he showed perfusion delay in left middle cerebral artery territory. Genetic panel test revealed a likely pathogenic varia nt in ATP1A2.

Abstract

Hemiplegic migraine (HM) is a rare form of migraine, characterized by migraine with reversible motor weakness. HM can be divided into sporadic and familiar HM based on familiarity. Mutations in CACNA1A, ATP1A2 and SCN1A were identified in familiar HM. We present a patient with sporadic HM exhibiting recurrent hemiplegia, mental change and fever along with headache attacks. During the hemiplegia, he showed perfusion delay in left middle cerebral artery territory. Genetic panel test revealed a likely pathogenic varia nt in ATP1A2.

참고문헌 (10)

  1. Olesen J, "Headache classification committee of the international headache society(IHS)the international classification of headache disorders, 3rd edition", Cephalalgia, 38, pp.1~211 (2018)
  2. Riant F, "De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine", Neurology, 75, pp.967~972 (2010)
  3. Russell MB, "Sporadic and familial hemiplegic migraine : pathophysiological mechanisms, clinical characteristics, diagnosis, and management", Lancet Neurol, 10, pp.457~470 (2011)
  4. de Vries B, "Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine", Neurology, 69, pp.2170~2176 (2007)
  5. Jen JC, "Prolonged hemiplegic episodes in children due to mutations in ATP1A2", J Neurol Neurosurg Psychiatry, 78, pp.523~526 (2007)
  6. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  7. 최경호, "Familial Hemiplegic Migraine with Prolonged Coma and Cerebellar Atrophy: CACNA1A T666M Mutation in a Korean Family", Journal of Korean Medical Science, 27(9), pp.1124~1127 (2012), 대한의학회
  8. Hermann A, "Hemiplegic migraine with reversible cerebral vasoconstriction caused by ATP1A2 mutations", J Neurol, 260, pp.2172~2174 (2013)
  9. Mourand I, "Perfusion-weighted MR imaging in persistent hemiplegic migraine", Neuroradiology, 54, pp.255~260 (2012)
  10. Iizuka T, "Neurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation", J Neurol Neurosurg Psychiatry, 83, pp.205~212 (2012)

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