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Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation

E Martínez1, R Moreno2, L López-Mesonero1

  • 1Neurology Department, Hospital Clínico Universitario, Valladolid, Spain.

Case Reports in Neurological Medicine
|November 8, 2016
PubMed

Insights

This study identifies a novel ATP1A2 gene mutation (p.Thr364Met) in a patient with severe familial hemiplegic migraine (FHM). This finding links specific ATP1A2 variants to prolonged FHM attacks and associated brain hypoperfusion.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura, characterized by neurological deficits, particularly motor weakness.
  • Genetic mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes are known causes of FHM.
  • Understanding the genetic basis of FHM is crucial for diagnosis and potential therapeutic strategies.

Purpose of the Study:

  • To investigate a specific mutation in the ATP1A2 gene in a patient presenting with particularly severe and prolonged symptoms of familial hemiplegic migraine.
  • To correlate the identified genetic variant with the clinical presentation and neuroimaging findings.

Main Methods:

  • Case study of a 22-year-old female with a history of hemiplegic migraine episodes.
  • Clinical assessment including neurological examination, fever, decreased consciousness, aphasia, and hemiplegia.
  • Neuroimaging techniques including Computed Tomography (CT) and CT perfusion study, alongside Magnetic Resonance (MR) imaging.
  • Genetic analysis to identify mutations in the ATP1A2 gene, with pathogenicity prediction using SIFT, PolyPhen2, MutationTaster, and Condel algorithms.

Main Results:

  • The patient experienced severe migraine attacks with right-sided weakness, aphasia, decreased consciousness, and hemiplegia, with symptoms lasting up to 10 days.
  • CT perfusion revealed oligohemia in the left hemisphere, while initial CT and subsequent MR imaging showed no structural lesions.
  • A heterozygous variant in the ATP1A2 gene (p.Thr364Met) was identified and predicted to be pathogenic.
  • Symptoms improved within days, with residual mild aphasia and hemiparesis resolving over 10 days, and no recurrence during a two-year follow-up.

Conclusions:

  • The ATP1A2 gene mutation p.Thr364Met is associated with severe and prolonged familial hemiplegic migraine attacks.
  • Diffuse hypoperfusion observed in FHM may be specifically linked to mutations within the ATP1A2 gene.
  • The identified p.T364M variant should be considered in the genetic diagnosis of FHM with severe and prolonged symptomatology.

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