Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017638 (glioma)
 30,880 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 26-year-old woman presented with headaches, incoordination and a cerebellar mass (1982). The CT scan revealed dilated ventricles and a hypodense space-occupying lesion adjacent to the fourth ventricle. Neuronal loss, gliosis and masses of Rosenthal fibers were seen in biopsy. There was no evidence of neoplasm. A second biopsy 2 years later was similar to the original specimen. A diagnosis of Alexander's disease was suggested. Later that year the patient's 11-year-old brother manifested a clinical picture initially diagnosed as brainstem glioma, but whose biopsy was characteristic of Alexander's disease. There has been a gradual deterioration of these siblings over the past 6 years (1986-1991). No evidence of neoplasm has appeared.
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PMID:Biopsy diagnosis of familial Alexander's disease. 145 72

A 31-year old woman died after 10 years of progressive dysautonomia and cerebellar and pyramidal symptoms. CT scan showed pontine, bulbar and cerebellar atrophy. Post-mortem examination revealed Rosenthal's fibers widespread throughout the CNS, but especially in the subependymal and perivascular regions. White matter cavitations involving peri-ventricular regions, hilum of dentate nuclei and pons were observed, leading to a diagnosis of adult form of Alexander's disease. At the age of 5, the patient had been operated upon for a chiasmatic tumor. Microscopic examination revealed a pilocytic astrocytoma without Rosenthal's fibers. No complementary radiotherapy had been done. Her mother has been operated upon in 1972, for a high-grade glioma and is still alive 20 years later. This suggests diffuse cerebral gliomatosis. This family history may suggest a relation between these different diseases. They might be the result of a transmissible astrocytic abnormality with varying expression.
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PMID:[Alexander's disease in adults and diffuse cerebral gliomatosis in 2 members of the same family]. 799 38

To understand the significance of the accumulation of alpha B-crystallin in Rosenthal fibers within astrocytes, the expression and metabolism of alpha B-crystallin in glioma cell lines were examined under the conditions of heat and oxidative stress. alpha B-crystallin mRNA was increased after both stresses, and alpha B-crystallin protein moved from a detergent-soluble to a detergent-insoluble form. In addition, Western blotting of Alexander's disease brain homogenates revealed that the 27-kd heat shock protein (HSP27), which is related to alpha B-crystallin, accumulates along with alpha B-crystallin. The presence of HSP27 in Rosenthal fibers was directly demonstrated by immunohistochemistry. Our results suggest that astrocytes in Alexander's disease may be involved in an as yet unknown kind of stress reaction that causes the accumulation of alpha B-crystallin and HSP27 and results in Rosenthal fiber formation.
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PMID:Alpha B-crystallin and 27-kd heat shock protein are regulated by stress conditions in the central nervous system and accumulate in Rosenthal fibers. 839 18

Standardized postembedding immunoelectron microscopy was performed to demonstrate glial fibrillary acidic protein (GFAP) and vimentin in individual intermediate filaments to determine the diagnostic value of demonstrating ultrastructural and immunophenotypic characteristics of intermediate filaments in routine brain biopsy specimens. Dual expression of GFAP and vimentin was observed in the astroblastoma and astrocytes of Alexander's disease. The antigen availability for vimentin, however, was too low to allow reliable assessment of the GFAP:vimentin ratio in individual intermediate filaments and/or filament bundles. In meningioma, only vimentin positive intermediate filaments were found. GFAP positive intermediate filaments were present in all other specimens except the oligodendroglial components of the mixed glioma, which were devoid of intermediate filaments. GFAP positivity in the filamentous periphery and electron-dense core of Rosenthal fibers was demonstrated. Technical and tissue processing factors had a significant effect on particle density values obtained for individual specimens. Although the number, distribution, and density of glial intermediate filaments varies in different astroglial entities, correlation of particle density values determined by immunoelectron microscopy with relative GFAP concentrations in different lesions requires utmost caution. Nevertheless, application of the postembedding approach to routinely fixed biopsy specimens indicated an association of different entities with the exclusive presence of GFAP and/or vimentin in individual intermediate filaments, thus emphasizing the diagnostic value of intermediate filament typing for pathological characterization.
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PMID:Semiquantitative postembedding characterization of intermediate filaments in central nervous system lesions using immunoelectron microscopy. 904 56

We report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation. In addition to typical AXD abnormalities, magnetic resonance imaging demonstrated a tumor-like lesion of the optic chiasm suggestive of a glioma. A transient papilloedema appeared during the follow-up and the lesion partially regressed despite a worsening of white matter involvement. Rare radiological and pathological tumor-like lesions have already been reported in AXD patients. This patient confirms that enlargement of the optic chiasm is a rare feature of AXD, possibly linked to abnormal astrocytic proliferation.
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PMID:Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. 1858 81

Alexander disease is a progressive neurodegenerative disease, which can present with brainstem lesions with imaging characteristics similar to multifocal low-grade glioma, thus presenting a diagnostic dilemma. The authors report a 6-year-old child presenting with multifocal brainstem lesions subsequently diagnosed to have Alexander disease. In vivo magnetic resonance spectroscopy generated a metabolite profile of the lesion allowing differentiation from low-grade glioma. Magnetic resonance spectroscopy is a powerful tool in the assessment of brainstem lesions and is a useful adjunct to conventional magnetic resonance imaging in the assessment and diagnosis of atypical brain lesions.
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PMID:Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease. 2127 Apr 71