title: Molecular pathology of human cerebral malformations.
abstract: Molecular pathogenesis of human cerebral malformations is briefly reviewed from a neuropathologic 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.
authors.affiliation: Department of Pediatrics, Jichi Medical School, 3,311-1 Yakushiji, Minamikawachi, Kawachi-gun, Tochigi 329-0498, Japan. mmizuguc@jichi.ac.jp
authors.forename: Masashi
authors.initials: M
authors.lastname: Mizuguchi
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000196:embryology / Q000473:pathology; D002465:Cell Movement; D002540:Cerebral Cortex / Q000378:metabolism; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000096:biosynthesis; D016142:Holoprosencephaly / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008954:Models, Biological; D009474:Neurons / Q000166:cytology / Q000378:metabolism; D013997:Time Factors
chemical_list: D005904:Glial Fibrillary Acidic Protein