Molecular pathology of human cerebral malformations

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Abstract

ABSTRACT Molecular pathogenesis of human cerebral malformations is briefly reviewed from a neuro-pathologic viewpoint, with emphasis on holoprosencephaly and neuronal migration disorders. Immunopathologic approaches are useful in elucidating the essential pathomechanism of these anomalies. In alobar holoprosencephaly, for instance, immunostaining for glial fibrillary acidic protein clarifies the pathologic significance of the leptomeningeal glioneuronal heterotopia along the ventral prosencephalic surface. In type 1 lissencephaly and subcortical laminar heterotopia, immunohistochemistry for the causative gene products revealed the temporal and spatial pattern of their localization in the normally developing cerebrum, as well as their reduction in these disorders.

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