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Case report
Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine
  1. Marianna Gabriella Rispoli1,
  2. Vincenzo Di Stefano1,
  3. Elide Mantuano2 and
  4. Maria Vittoria De Angelis3
  1. 1 Department of Neuroscience, Imaging and Clinical Sciences, "G. d’ annunzio" University, Chieti, Italy
  2. 2 Institute of Translational Pharmacology, National Research Council of Italy, Rome, Italy
  3. 3 Department of Neurology, SS Annunziata Hospital, Chieti, Italy
  1. Correspondence to Dr Vincenzo Di Stefano; vincenzo19689{at}gmail.com

Abstract

Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic therapy with verapamil. Late-onset HM should be considered among the possible causes of focal neurological deficits even in older patients with cerebrovascular risk factors when a stroke appears to be more likely.

  • neurology
  • headache (including migraines)
  • neuro genetics
  • neuroimaging
  • genetic screening / counselling
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Footnotes

  • Contributors MGR, VDS and EM provided clinical care to the patient, conception and design, acquisition of the data, analysis and interpretation of the data; EM and MVDA revised the article critically for intellectual content; all authors contributed to and have approved the final version of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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