The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander’s disease: a case report and review of the literature

作者: J Jacob

DOI: 10.1136/JNNP.74.6.807

关键词: EncephalopathyPathologyRosenthal fiberDegenerative diseaseAutopsyCentral nervous system diseaseMegalencephalyAlexander diseaseGlial fibrillary acidic proteinMedicine

摘要: Alexander’s disease is a leucodystrophy that usually presents in early childhood, but can infrequently arise adults. It characterised pathologically by megalencephaly, demyelination, and the presence of numerous Rosenthal fibres. Most cases have been shown to be due mutations gene encoding glial fibrillary acidic protein. In rare instances, fibres found at autopsy patients who suffered protracted debilitating systemic illnesses, some with associated brain stem signs, very instances no apparent neurological abnormality. The term “Rosenthal fibre encephalopathy” used distinguish these from those disease. We report first case encephalopathy young man AIDS, review literature.

参考文章(28)
Jun Tateishi, James E. Goldman, Toru Iwaki, Yoshiyuki Sakaki, Akiko Iwaki, Akiko Iwaki, αB-crystallin and 27-kd heat shock protein are regulated by stress conditions in the central nervous system and accumulate in Rosenthal fibers American Journal of Pathology. ,vol. 143, pp. 487- 495 ,(1993)
J. E. Goldman, E. Corbin, Rosenthal fibers contain ubiquitinated alpha B-crystallin. American Journal of Pathology. ,vol. 139, pp. 933- 938 ,(1991)
Albee Messing, James E. Goldman, Anne B. Johnson, Michael Brenner, Alexander disease: new insights from genetics. Journal of Neuropathology and Experimental Neurology. ,vol. 60, pp. 563- 573 ,(2001) , 10.1093/JNEN/60.6.563
JE Goldman, A Messing, EJ Galbreath, Mark Head, M Brenner, K Galles, Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. American Journal of Pathology. ,vol. 152, pp. 391- 398 ,(1998)
Michael Brenner, Anne B. Johnson, Odile Boespflug-Tanguy, Diana Rodriguez, James E. Goldman, Albee Messing, Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nature Genetics. ,vol. 27, pp. 117- 120 ,(2001) , 10.1038/83679
Diana Rodriguez, Fernande Gauthier, Enrico Bertini, Marianna Bugiani, Michael Brenner, Sylvie N'guyen, Cyril Goizet, Antoinette Gelot, Robert Surtees, Jean-Michel Pedespan, Xavier Hernandorena, Monica Troncoso, Graziela Uziel, Albee Messing, Gérard Ponsot, Danielle Pham-Dinh, André Dautigny, Odile Boespflug-Tanguy, Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. American Journal of Human Genetics. ,vol. 69, pp. 1134- 1140 ,(2001) , 10.1086/323799
Dov Soffer, Dikran S. Horoupian, Rosenthal fibers formation in the central nervous system. Its relation to Alexander's disease. Acta Neuropathologica. ,vol. 47, pp. 81- 84 ,(1979) , 10.1007/BF00698278
Anne B. Johnson, Annemarie Bettica, On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue American Journal of Anatomy. ,vol. 185, pp. 335- 341 ,(1989) , 10.1002/AJA.1001850228
ROBERT M. HERNDON, LUCIEN J. RUBINSTEIN, JOHN M. FREEMAN, GORDON MATHIESON, Light and Electron Microscopic Observations on Rosenthal Fibers in Alexander's Disease and in Multiple Sclerosis Journal of Neuropathology and Experimental Neurology. ,vol. 29, pp. 524- 551 ,(1970) , 10.1097/00005072-197010000-00002
Robert M. Herndon, Is Alexander's disease a nosologic entity or a common pathologic pattern of diverse etiology? Journal of Child Neurology. ,vol. 14, pp. 275- 276 ,(1999) , 10.1177/088307389901400501