Malformations of Cortical Development: Genetic Aspects
The development of the human cerebral cortex is a complex dynamic process that occurs during several gestational weeks . During the first stage, stem cells proliferate and differentiate into young neurons or glial cells deep in the forebrain in the ventricular and subventricular zones lining the cerebral cavity. During the second stage, cortical neurons migrate away from their place of origin: most cells migrate along the radial glial fibres from the periventricular region towards the pial surface, where each successive generation passes one another and settles in an inside-out pattern within the cortical plate. When neurons reach their destination, they stop migrating and order themselves into specific ”architectonic“ patterns guiding cells to the correct location in the cerebral cortex. This third phase involves final organization within the typical six layers of cortex, associated with synaptogenesis and apoptosis.
KeywordsInfantile Spasm Congenital Muscular Dystrophy Germline Mosaicism Periventricular Nodular Heterotopia Spastic Quadriplegia
- 13.Roll P, Rudolf G, Pereira S et al (2006) SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 15:1195– 1207Google Scholar
- 16.Dobyns WB, Mirzaa G, Christian SL et al (2008) Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A 146A: 1637–1654Google Scholar