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cerebral developmental anomalies

Wednesday 28 May 2003

The development of the cerebral cortex progresses through defined stages including neural proliferation, neuroblast migration and neuronal differentiation. Disruptions in each of these developmental stages can lead to characteristic cerebral cortical malformations.


- cerebral macroscopical malformations
- anomalies of cortical development

  • anomalies of neural proliferation
  • anomalies of neuroblast migration
  • anomalies of neuronal differentiation


- Mutations in genes that are involved in neural proliferation give rise to microcephaly (small brain).
- Mutations in genes that direct the onset of neuroblast migration give rise to periventricular cortical heterotopia (clusters of neurons along the ventricles of the brain).
- Mutations in genes that are required for neuroblast migration cause type I lissencephaly (smooth brain) and subcortical band heterotopia (smooth brain with a band of neurons beneath the cortex).
- Mutations in genes that direct migratory neurons to arrest in the cortex lead to type II lissencephaly (smooth brain with clusters of neurons along the surface of the brain).


- Lian G, Sheen V. Cerebral developmental disorders. Curr Opin Pediatr. 2006 Dec;18(6):614-20. PMID: 17099359

- Guerrini R, Marini C. Genetic malformations of cortical development. Exp Brain Res. 2006 Aug;173(2):322-33. PMID: 16724181