Alexander disease
How is it diagnosed?
An exact diagnosis of Alexander disease may not be possible without post mortem examination of brain or nerve tissues. Brain biopsy or autopsy specimens show a characteristic appearance on microscopy of the brain tissue. Degeneration of supporting cells (astrocytes) leads to long eosinophilic (red staining) masses known as Rosenthal fibres that are usually found in relation to blood vessels. For some, therefore, a diagnosis of this disease is not possible within the child's lifetime. Genotype analysis at the GFAP locus is now possible and may allow confident diagnosis in a majority of cases if the disease is suspected.
What are the causes?
| How is it treated? ![]()