| Autor: |
Gorospe, J. R., Naidu, S., Johnson, A. B., Puri, V., Raymond, G. V., Jenkins, S. D., Pedersen, R. C., Lewis, D., Knowles, P., Fernandez, R., De Vivo, D., Knaap, M. S. van der, Messing, A., Brenner, M., Hoffman, E. P. |
| Zdroj: |
Neurology (Ovid); May 2002, Vol. 58 Issue: 10 p1494-1500, 7p |
| Abstrakt: |
Alexander disease is a slowly progressive CNS disorder that most commonly occurs in children. Until recently, the diagnosis could only be established by the histologic finding of Rosenthal fibers in brain specimens. Mutations in the glial fibrillary acidic protein (GFAP) gene have now been shown in a number of biopsy- or autopsy-proven patients with Alexander disease. A prospective study on patients suspected to have Alexander disease was conducted to determine the extent to which clinical and MRI criteria could accurately diagnose affected individuals, using GFAPgene sequencing as the confirmatory assay. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
