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Genetics of Headache

  • Chapter
Pathophysiology of Headaches

Part of the book series: Headache ((HEAD))

Abstract

Migraine is an episodic brain disorder with disabling attacks of headache that are associated with nausea, vomiting, and hypersensitivity to light, sound, and smell. Clinically, migraine is divided into two main subtypes that are based on the absence (migraine without aura, MO) or presence (migraine with aura, MA) of an aura. The importance of genetic determinants in migraine is well established. The prototype of monogenic forms of migraine is familial hemiplegic migraine (FHM), a rare condition for which three causative genes have been identified. Studies of transgenic animal models have substantially improved our understanding of the molecular pathophysiology of FHM and helped to understand the mechanisms of aura in migraine in general. Beyond this, there are other (rarer) syndromic forms of migraine, e.g., MELAS and CADASIL. By contrast, the more common types of migraine with and without aura are genetically complex and identification of robust genetic risk variants in transnational genome-wide association studies (GWAS) has substantially increased our knowledge in this expanding field. We will summarize the current status of migraine genetics, with a special focus on FHM and the most recent findings in GWAS.Current studies in pharmacogenomics as a contribution to improve treatment options in individual patients and the future landscape of sequence methodologies in migraine are also discussed.

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Authors and Affiliations

  1. Department of Molecular Medicine, Don Gnocchi Foundation, Milan, Italy

    Cherubino Di Lorenzo

  2. Departments of Child Neurology and Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Pisa, Italy

    Filippo M. Santorelli

  3. Departments of Human Genetics and Neurology, Leiden University Medical Centre, 9600, Leiden, 2300 RC, The Netherlands

    Arn M. J. M. van den Maagdenberg

Authors
  1. Cherubino Di Lorenzo
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  2. Filippo M. Santorelli
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  3. Arn M. J. M. van den Maagdenberg
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Corresponding authors

Correspondence to Filippo M. Santorelli or Arn M. J. M. van den Maagdenberg .

Editor information

Editors and Affiliations

  1. Department of Neurology, Danish Headache Center Rigshospitalet and Glostrup Hospital, Glostrup, Denmark

    Messoud Ashina

  2. Department of Health Sciences, University of Florence, Florence, Italy

    Pierangelo Geppetti

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Di Lorenzo, C., Santorelli, F.M., van den Maagdenberg, A.M.J.M. (2015). Genetics of Headache. In: Ashina, M., Geppetti, P. (eds) Pathophysiology of Headaches. Headache. Springer, Cham. https://doi.org/10.1007/978-3-319-15621-7_4

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