Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly

Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768-9. Epub 2010 Nov 3.

Abstract

Type I lissencephaly or agyria-pachygyria is a rare developmental disorder which results from a defect of neuronal migration. It is characterized by the absence of gyri and a thickening of the cerebral cortex and can be associated with other brain and visceral anomalies. Since the discovery of the first genetic cause (deletion of chromosome 17p13.3), six additional genes have been found to be responsible for agyria-pachygyria. In this review, we summarize the current knowledge concerning these genetic disorders including clinical, neuropathological and molecular results. Genetic alterations of LIS1, DCX, ARX, TUBA1A, VLDLR, RELN and more recently WDR62 genes cause migrational abnormalities along with more complex and subtle anomalies affecting cell proliferation and differentiation, i.e., neurite outgrowth, axonal pathfinding, axonal transport, connectivity and even myelination. The number and heterogeneity of clinical, neuropathological and radiological defects suggest that type I lissencephaly now includes several forms of cerebral malformations. In vitro experiments and mutant animal studies, along with neuropathological abnormalities in humans are of invaluable interest for the understanding of pathophysiological mechanisms, highlighting the central role of cytoskeletal dynamics required for a proper achievement of cell proliferation, neuronal migration and differentiation.

Publication types

  • Review

MeSH terms

  • 1-Alkyl-2-acetylglycerophosphocholine Esterase / genetics
  • Brain* / metabolism
  • Brain* / pathology
  • Cell Cycle Proteins
  • Cell Movement / genetics
  • Cell Proliferation
  • Classical Lissencephalies and Subcortical Band Heterotopias / genetics*
  • Classical Lissencephalies and Subcortical Band Heterotopias / pathology*
  • Cytoskeleton* / genetics
  • Cytoskeleton* / metabolism
  • Cytoskeleton* / pathology
  • Diagnostic Imaging / methods
  • Doublecortin Domain Proteins
  • Doublecortin Protein
  • Female
  • Homeodomain Proteins / genetics
  • Humans
  • Male
  • Microtubule-Associated Proteins / genetics
  • Models, Biological
  • Mutation / genetics
  • Nerve Tissue Proteins / genetics
  • Neurons / metabolism
  • Neurons / pathology
  • Neuropeptides / genetics
  • Reelin Protein
  • Transcription Factors / genetics
  • Tubulin / genetics

Substances

  • ARX protein, human
  • Cell Cycle Proteins
  • DCX protein, human
  • Doublecortin Domain Proteins
  • Doublecortin Protein
  • Homeodomain Proteins
  • Microtubule-Associated Proteins
  • Nerve Tissue Proteins
  • Neuropeptides
  • Reelin Protein
  • TUBA1A protein, human
  • Transcription Factors
  • Tubulin
  • WDR62 protein, human
  • 1-Alkyl-2-acetylglycerophosphocholine Esterase
  • PAFAH1B1 protein, human
  • RELN protein, human