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Malformations of Cerebral Cortex Development: Molecules and Mechanisms
Gordana Juric-Sekhar1,2, Robert F Hevner1,2,3,4
1Department of Pathology, University of Washington School of Medicine, Seattle, Washington 98195, USA; email: gordana@uw.edu , rhevner@ucsd.edu.
Annual Review of Pathology
|January 25, 2019
Summary
Advances in DNA sequencing reveal genetic causes for brain malformations like hemimegalencephaly. New imaging aids in characterizing subtle cortical malformations linked to neurodevelopmental disorders.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Malformations of cortical development are diverse structural brain anomalies.
- These are linked to complex neurodevelopmental disorders with varied causes.
- Recent genetic discoveries are improving our understanding of these conditions.
Purpose of the Study:
- To review progress in understanding the genetic basis of brain malformations.
- To highlight how DNA sequencing advances have impacted this field.
- To discuss specific malformations where genetic etiologies clarify pathogenesis.
Main Methods:
- Review of recent scientific literature.
- Focus on advances in DNA sequencing technologies.
- Integration of neuroimaging findings.
Main Results:
- Somatic mosaic mutations activating mTOR signaling cause hemimegalencephaly and focal cortical dysplasia.
- Understanding of cortical development, including gyrification and axon guidance, has improved.
- Advanced neuroimaging enhances characterization of subtle malformations.
Conclusions:
- Genetic insights are crucial for understanding the pathogenesis of cortical malformations.
- Technological advancements are key to identifying genetic etiologies.
- Improved characterization of malformations aids in diagnosing neurodevelopmental disorders.
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