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Article

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.

PloS one - 1 Jan 2021

Urbizu Aintzane, Garrett Melanie E, Soldano Karen, Drechsel Oliver, Loth Dorothy, Marcé-Grau Anna, Mestres I Soler Olga, Poca Maria A, Ossowski Stephan, Macaya Alfons, Loth Francis, Labuda Rick, Ashley-Koch Allison

Abstract excerpt

Chiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms. Cranial bone constriction is suspected to be the most common biologic mechanism leading to CM-1. However, other mechanisms may also contribute, particularly in the presence of connective tissue disorders (CTDs), such as Ehlers Danlos...

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PMID: 33974636
DOI: 10.1371/journal.pone.0251289
PMCID: PMC8112708

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