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Genotypically defined lissencephalies show distinct pathologies.

Mark S Forman1, Waney Squier, William B Dobyns

  • 1Department of Pathology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA, and Department of Neurology, Radcliffe Infirmary, Oxford, UK.

Journal of Neuropathology and Experimental Neurology
|October 11, 2005
PubMed
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Lissencephaly, a brain malformation, presents at least four distinct histopathologic subtypes. These subtypes correlate with specific genetic defects, leading to a proposed new classification system for lissencephaly.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Lissencephaly is traditionally classified into two forms: classic (Type I) and cobblestone (Type II).
  • Mutations in LIS1, DCX, RELN, and ARX genes are linked to Type I lissencephaly, impacting neuronal migration.
  • Previous assumptions suggested radiographic Type I lissencephaly might share similar pathology regardless of genetic cause.

Purpose of the Study:

  • To investigate the histopathologic similarities and differences in Type I lissencephaly across various genetic mutations and idiopathic cases.
  • To determine if radiographic findings of Type I lissencephaly correlate with distinct pathological subtypes.
  • To propose a revised classification for lissencephaly integrating genetic and pathologic data.

Main Methods:

Related Experiment Videos

  • Histopathologic examination of 16 patient brains (15 lissencephalic, 1 with subcortical band heterotopia).
  • Genotyping included LIS1 deletions (6), DCX mutations (2), and ARX mutations (2).
  • Analysis of cortical thickness, topographic distribution of pathology, and cytoarchitecture, including cases with unknown genetic defects.

    • Main Results:

    • Cortical thickening was observed in all cases, with varied topographic distribution.
    • LIS1 deletions showed a classic 4-layer lissencephalic architecture.
    • DCX and ARX mutations exhibited unique cytoarchitectural findings distinct from LIS1.
    • Two patients with unknown genetic defects displayed a fourth histopathologic type with a 2-layered cortex and brainstem/cerebellar abnormalities.
    • Subcortical band heterotopia shared malformation patterns with XLIS mutations.

    Conclusions:

    • Lissencephaly exhibits at least four distinct histopathologic subtypes.
    • These subtypes stratify with the underlying genetic defect, challenging the assumption of uniform pathology in radiographic Type I lissencephaly.
    • A new classification system for lissencephaly incorporating both pathologic and genetic findings is proposed.