Alexander disease: a primary disease of astrocytes

摘要: Publisher Summary This chapter reviews that in the central nervous system (CNS) of higher vertebrates, astrocytes become reactive and respond a typical manner following injury, termed astrogliosis, either as result aging, trauma, disease, neurodegenerative disorders, genetic mechanical insult, or chemical insult. It discusses astrogliosis is characterized by rapid synthesis glial fibrillary acid protein (GFAP), principal intermediate filament mature astrocytes. The GFAP astrocytic response serves microsensor injured microenvironment at any location CNS. While involved with almost insult to CNS, no convincing evidence primary astrocyte disease had been demonstrated until development transgenic mouse model expressing human transgene. discovery these mice formed abundant rosenthal fibers (RFs) suggested mutations gene were cause Alexander disease. Only rare cases do contain RFs. finding mutation found many offers possibility diagnosing through analysis patients DNA samples. non-invasive assay eliminates morphological autopsy brain biopsy analyses.