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Cerebral Cavernous Malformation: From Mechanism to Therapy.

Publication ,  Journal Article
Snellings, DA; Hong, CC; Ren, AA; Lopez-Ramirez, MA; Girard, R; Srinath, A; Marchuk, DA; Ginsberg, MH; Awad, IA; Kahn, ML
Published in: Circ Res
June 25, 2021

Cerebral cavernous malformations are acquired vascular anomalies that constitute a common cause of central nervous system hemorrhage and stroke. The past 2 decades have seen a remarkable increase in our understanding of the pathogenesis of this vascular disease. This new knowledge spans genetic causes of sporadic and familial forms of the disease, molecular signaling changes in vascular endothelial cells that underlie the disease, unexpectedly strong environmental effects on disease pathogenesis, and drivers of disease end points such as hemorrhage. These novel insights are the integrated product of human clinical studies, human genetic studies, studies in mouse and zebrafish genetic models, and basic molecular and cellular studies. This review addresses the genetic and molecular underpinnings of cerebral cavernous malformation disease, the mechanisms that lead to lesion hemorrhage, and emerging biomarkers and therapies for clinical treatment of cerebral cavernous malformation disease. It may also serve as an example for how focused basic and clinical investigation and emerging technologies can rapidly unravel a complex disease mechanism.

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Published In

Circ Res

DOI

EISSN

1524-4571

Publication Date

June 25, 2021

Volume

129

Issue

1

Start / End Page

195 / 215

Location

United States

Related Subject Headings

  • Signal Transduction
  • Phenotype
  • Mutation
  • Humans
  • Hemangioma, Cavernous, Central Nervous System
  • Genetic Predisposition to Disease
  • Cerebral Veins
  • Cardiovascular System & Hematology
  • Animals
  • 3202 Clinical sciences
 

Citation

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Snellings, D. A., Hong, C. C., Ren, A. A., Lopez-Ramirez, M. A., Girard, R., Srinath, A., … Kahn, M. L. (2021). Cerebral Cavernous Malformation: From Mechanism to Therapy. Circ Res, 129(1), 195–215. https://doi.org/10.1161/CIRCRESAHA.121.318174
Snellings, Daniel A., Courtney C. Hong, Aileen A. Ren, Miguel A. Lopez-Ramirez, Romuald Girard, Abhinav Srinath, Douglas A. Marchuk, Mark H. Ginsberg, Issam A. Awad, and Mark L. Kahn. “Cerebral Cavernous Malformation: From Mechanism to Therapy.Circ Res 129, no. 1 (June 25, 2021): 195–215. https://doi.org/10.1161/CIRCRESAHA.121.318174.
Snellings DA, Hong CC, Ren AA, Lopez-Ramirez MA, Girard R, Srinath A, et al. Cerebral Cavernous Malformation: From Mechanism to Therapy. Circ Res. 2021 Jun 25;129(1):195–215.
Snellings, Daniel A., et al. “Cerebral Cavernous Malformation: From Mechanism to Therapy.Circ Res, vol. 129, no. 1, June 2021, pp. 195–215. Pubmed, doi:10.1161/CIRCRESAHA.121.318174.
Snellings DA, Hong CC, Ren AA, Lopez-Ramirez MA, Girard R, Srinath A, Marchuk DA, Ginsberg MH, Awad IA, Kahn ML. Cerebral Cavernous Malformation: From Mechanism to Therapy. Circ Res. 2021 Jun 25;129(1):195–215.

Published In

Circ Res

DOI

EISSN

1524-4571

Publication Date

June 25, 2021

Volume

129

Issue

1

Start / End Page

195 / 215

Location

United States

Related Subject Headings

  • Signal Transduction
  • Phenotype
  • Mutation
  • Humans
  • Hemangioma, Cavernous, Central Nervous System
  • Genetic Predisposition to Disease
  • Cerebral Veins
  • Cardiovascular System & Hematology
  • Animals
  • 3202 Clinical sciences