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Neuronal migration disorder: Expression of gene products in the neocortex
Author(s) -
Takashima Sachio,
Mizuguchi Masashi,
Arii Naoto
Publication year - 1998
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.1998.tb00143.x
Subject(s) - tuberous sclerosis , hemimegalencephaly , neocortex , cortical dysplasia , lissencephaly , cerebral cortex , pathology , biology , polymicrogyria , pachygyria , neuroscience , cortex (anatomy) , megalencephaly , medicine , epilepsy , gene , genetics
Many genes are concerned with neuronal migration and arrangement in the cerebral cortex. In this report, the gene products of Miller‐Dieker syndrome, thanatophoric dysplasia and tuberous sclerosis, of which the genes have been recently identified, were studied using the histochemical methods of LIS‐1, FGFR3 and tuberin. In Miller‐Dieker syndrome, there was an early arrest of neuronal migration in the deep cellular layer and disarrangement of neuronal settling in the superficial cellular layer, which may be related to loss of LIS‐1 immunoreactivity in the brain of sufferers of this disease. In thanatophoric dysplasia there were various degrees of polymicrogyria to microgyria in the cortex of deep sulci, predominantly in the temporal lobes, and these may have been produced through glia or vessels which showed high FGFR3 immunoreactivity in the early fetal period. In tuberous sclerosis there was abnormal differentlation and migration of neural cells in the cerebral hemisphere which showed a decreased immunoreactivity of tuberin. Tuberin is a tumor suppressor and it may play a critical role in the pathogenesis of tuberous sclerosis. Thus, the foundation of antibodies against gene products is important in order to clarify the pathomechanism of migration disorders, and to establish their diagnosis and classification.