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Cell migration and cerebral cortical development.

J A Golden1

  • 1Department 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

Neuropathology and Applied Neurobiology
|April 12, 2001
PubMed
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This study reviews brain malformations like lissencephaly and polymicrogyria, focusing on cellular defects in migration. Understanding these conditions aids in diagnosing and potentially treating developmental brain disorders.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Cell migration is crucial for normal brain development.
  • Defects in cell migration lead to various cortical malformations.
  • Conditions discussed include lissencephalies, pachygria, polymicrogyrias, and focal cortical dysplasia.

Purpose of the Study:

  • To describe the clinical and pathological features of brain malformations resulting from primary defects in cell migration.
  • To explore the diverse etiological factors and genetic underpinnings of these developmental disorders.
  • To clarify the classification and pathogenesis of conditions like lissencephaly, polymicrogyria, and heterotopia.

Main Methods:

  • Review and synthesis of existing clinical and pathological data.

Related Experiment Videos

  • Analysis of genetic loci and associated proteins involved in cell migration.
  • Classification of malformations based on clinical presentation and developmental timing.

    • Main Results:

    • Identified two main types of lissencephaly (Type I and Type II) with distinct genetic causes (LIS-1, XLIS, doublecortin).
    • Highlighted the association of Type II lissencephaly with Walker-Warburg syndrome and congenital muscular dystrophies.
    • Described polymicrogyria as potentially both a malformation and developmental disruption, occurring between 17-26 weeks gestation.
    • Characterized heterotopia as misplaced grey matter, with X-linked periventricular heterotopia linked to filamin-1 mutations.

    Conclusions:

    • Primary defects in cell migration underlie a spectrum of cortical malformations.
    • Genetic factors, including mutations in LIS-1, doublecortin, and filamin-1, play significant roles.
    • Accurate classification remains challenging, with many cases not fitting easily into syndromic categories.