Genetics of the chiari I and II malformations

Book Section

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.

Full Text

Duke Authors

Cited Authors

  • Markunas, CA; Ashley-Koch, AE; Gregory, SG

Published Date

  • January 1, 2020

Book Title

  • The Chiari Malformations

Start / End Page

  • 289 - 297

International Standard Book Number 13 (ISBN-13)

  • 9783030448615

Digital Object Identifier (DOI)

  • 10.1007/978-3-030-44862-2_23

Citation Source

  • Scopus