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Genetics of the Chiari I and II Malformations

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The Chiari Malformations

Abstract

Chiari malformations are considered to have a multifactorial etiology, likely influenced by environmental and genetic factors. This chapter will detail the evidence that supports a genetic contribution to the disorder, including discussions of twin studies, familial aggregation, co-occurrence with known genetic syndromes, and previous genetic studies. While no susceptibility genes have been identified to date, gene identification efforts are continuing. It is expected that researchers will have a more complete understanding of the specific genes and biological pathways that contribute to disease development in the coming years. The future benefits from genetic research of Chiari I and II may include the development of genetic tests that result in more accurate and faster diagnoses as well as new targeted treatment options for patients.

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Authors and Affiliations

  1. Behavioral Health Research Division, RTI International, Durham, NC, USA

    Christina A. Markunas

  2. Departments of Medicine, and Biostatistics and Bioinformatics, Duke Molecular Physiology Institute, Durham, NC, USA

    Allison E. Ashley-Koch

  3. Department of Neurology, Duke Molecular Physiology Institute, Durham, NC, USA

    Simon G. Gregory

Authors
  1. Christina A. Markunas
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  2. Allison E. Ashley-Koch
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  3. Simon G. Gregory
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Correspondence to Allison E. Ashley-Koch .

Editor information

Editors and Affiliations

  1. Department of Neurosurgery, Tulane University School of Medicine, New Orleans, LA, USA

    R. Shane Tubbs

  2. Department of Neurosurgery, Aydın Adnan Menderes University School of Medicine, Efeler, Aydın, Turkey

    Mehmet Turgut

  3. Departments of Neurosurgery and Pediatrics, University of Alabama, Birmingham, AL, USA

    W. Jerry Oakes

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Markunas, C.A., Ashley-Koch, A.E., Gregory, S.G. (2020). Genetics of the Chiari I and II Malformations. In: Tubbs, R., Turgut, M., Oakes, W. (eds) The Chiari Malformations. Springer, Cham. https://doi.org/10.1007/978-3-030-44862-2_23

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