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Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
J Med Genet
October 2008
Pediatric Neurology Hopital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.
Objective: We have recently shown that de novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders. To better define the range of these abnormalities, we searched for additional mutations in a cohort of 100 patients with lissencephaly spectrum for whom no mutation was identified in DCX, LIS1 and ARX genes and compared these data to five previously described patients with TUBA1A mutations.
Results: We detected de novo TUBA1A mutations in six patients and highlight the existence of a prominent form of TUBA1A related lissencephaly.
Synaptophysin immunocytochemistry with thermal intensification: a marker of terminal axonal maturation in the human fetal nervous system.
Brain Dev
January 1999
Department of Neurology, University of Washington School of Medicine, Seattle 98195, USA.
Synaptophysin is a protein of synaptic vesicles and may be demonstrated in tissue sections of human brain and spinal cord by immunocytochemistry using a monoclonal antibody. Synaptophysin immunoreactivity was studied in paraffin-embedded sections of the central nervous system (CNS) in 14 normal human fetuses and neonates ranging in age from 8 to 41 weeks gestation, and in three brains with heterotopic neurons or malformations. A progressive expression of synaptophysin is seen in axonal terminals within grey matter in various parts of the CNS, beginning in the ventral horns of the spinal cord and brainstem tegmentum at 12-14 weeks.
View Article and Find Full Text PDFNeuronal nuclear antigen (NeuN): a marker of neuronal maturation in early human fetal nervous system.
Brain Dev
March 1998
Department of Neurology, University of Washington School of Medicine, Seattle 98195, USA.
Neuronal nuclear antigen (NeuN) immunocytochemistry was studied in 15 normal human fetal nervous systems of 8-24 weeks gestation and in four term neonates. Material was derived from products of conception or from autopsy. Antigen retrieval was enhanced for immunocytochemistry by microwave heating of formalin-fixed paraffin sections.
View Article and Find Full Text PDFMigration disorders leading to a wide spectrum of brain malformations in a case with multiorganic dysgeneses: A new syndrome?
Folia Neuropathol
February 1997
Laboratory of Developmental Neuropathology Medical Research Centre, Polish Academy of Sciences, Warszawa.
A case of a preterm infant who died with multiorgan, mainly cerebro-oculo-cutaneous malformations is presented. The brain dysgenesias consist of early disturbances of neuronal migration. They result on appearance of nodular subcortical heterotopias, cortical anomalies including pachy- and polymicrogyria and focal intrusion of numerous abnormally migrating nerve cells into leptomeninges.
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