A comparison of cell phenotypes in hemimegalencephaly and tuberous sclerosis
| Autor: | L. E. Becker, Yasuhiro Arai, Vern Edwards |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Cortical tubers
Pathology medicine.medical_specialty Hemimegalencephaly Neurofilament Adolescent Nerve Tissue Proteins Pathology and Forensic Medicine Cellular and Molecular Neuroscience Tuberous sclerosis Tuberous Sclerosis Tuberous Sclerosis Complex 2 Protein medicine Humans Child Cerebral Cortex Brain Diseases Glial fibrillary acidic protein biology Tumor Suppressor Proteins fungi food and beverages medicine.disease Immunohistochemistry Repressor Proteins Microscopy Electron Phenotype medicine.anatomical_structure Child Preschool biology.protein Synaptophysin Neurology (clinical) Neuron TSC2 |
| Zdroj: | Acta Neuropathologica. 98:407-413 |
| ISSN: | 1432-0533 0001-6322 |
| Popis: | Hemimegalencephaly, an uncommon sporadic nonfamilial congenital dysplastic abnormality of the central nervous system, constitutes a pathological spectrum of neuronal migration disorders, but consistently includes abnormal large neurons similar to those in the cortical tubers of tuberous sclerosis. Microscopically, there are also cells with homogeneous and weakly eosinophilic cytoplasm with a single eccentric nucleus, sometimes called balloon cells (likewise prominent in tuberous sclerosis). We looked for immunohistochemical and ultrastructural differences in the large neurons and balloon cells between hemimegalencephaly and tuberous sclerosis. Microtubule-associated protein 1B and 2, phosphorylated and non-phosphorylated neurofilament and synaptophysin identify the large neurons and distinguish them from balloon cells in both entities. Balloon cells in hemimegalencephaly showed no immunoreactivity for TSC2 gene product, tuberin, and vimentin, but similar cells in tuber tissue showed consistent immunoreactivity. Balloon cells in hemimegalencephaly showed no immunoreactivity for glial fibrillary acidic protein, but some cells in tubers showed such immunoreactivity. Ultrastructurally, balloon cells in hemimegalencephaly contained very few lysosomes, microfilaments, and microtubules, but abundant lipofuscin granules. Similar cells in tubers had prominent lysosomes, more microfilaments and microtubules, and very few lipofuscin granules. The resemblance between abnormal cells in hemimegalencephaly and tuberous sclerosis is superficial; their immunohistochemistry and electron microscopic profiles show distinct differences. |
| Databáze: | OpenAIRE |
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