Cell migration and cerebral cortical development.
This annotation describes the clinical and pathological features of several conditions believed to result from a primary defect in cell migration which include the lissencephalies, pachygria, polymicrogyrias, and focal cortical dysplasia. A variety of factors must be considered in pathogeneses, including cellular proliferation, cell death, post-migrational intracortical growth and development, axonogenesis and dendritogenesis. At least two distinct types of lissencephaly exist. Classic (also known as Type I) lissencephaly is the prototypic pattern being seen in autosomal dominant Miller-Dieker syndrome, in addition to autosomal recessive and X-linked forms. The Miller-Dieker syndrome locus (LIS-1) encodes the platelet activating factor acetylhydrolase-1, beta1 subunit. The gene for an X-linked form of lissencephaly (XLIS) encodes a protein called doublecortin. Cobblestone (type II) lissencephaly is most commonly seen in patients with the Walker-Warburg syndrome, and also occurs in a group of disorders associated with congenital muscular dystrophy, including Finnish 'muscle-eye-brain' disease and Fukuyama muscular dystrophy. Controversy exits as to whether polymicrogyria is a malformation or a disruption of development. The answer is likely both. Polymicrogyria is believed to arise from defects occurring between 17 and 25 or 26 weeks gestation. Heterotopia can be sporadic, inherited as a simple Mendelian trait, or may be part of a more complex syndrome being characterized by collections of disorganized grey matter in inappropriate places. X-linked periventricular heterotopia syndrome is caused by mutations in filamin-1. In addition to those described above, many other syndromes show lissencephaly, pachygyria and polymicrogyria and many cases are not easily classified into any particular syndrome.
Golden
J A
JA
Department of Pathology, The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. goldenj@mail.med.upenn.edu
D001927:Brain Diseases / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D002465:Cell Movement / Q000235:genetics*; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000254:growth & development / Q000473:pathology; D002552:Cerebral Ventricles / Q000002:abnormalities; D002828:Choristoma / Q000175:diagnosis / Q000473:pathology; D003937:Diagnosis, Differential; D005799:Genes, Dominant; D009474:Neurons / Q000473:pathology; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics