Alexander disease

Alexander disease causes the affected person to slowly begin to lose body function and eventually the ability to talk.

Alexander disease has historically been included among the leukodystrophies diseases of the white matter of the brain.

Alexander disease is a slowly progressing and fatal neurodegenerative disease.

Alexander disease is a genetic disorder affecting the central nervous system (midbrain and cerebellum).

It is even possible to detect adult-onset Alexander disease with MR imaging.

Alexander disease may also be revealed by genetic testing for the known cause of Alexander disease.

GFAP therefore plays an important role in the pathogenesis of Alexander disease.

Alexander disease belongs to leukodystrophies, a group of diseases which affect growth or development of the myelin sheath.

The cause of Alexander disease is a mutation in the gene encoding glial fibrillary acidic protein.

The Rosenthal fibers found in Alexander disease are not distributed in the same areas or as concentrated when compared to other diseases and disorders.

Another condition directly related to GFAP is Alexander disease, a rare genetic disorder.

Accordingly, it is more appropriate to consider Alexander disease a disease of astrocytes (an astrogliopathy) than a white matter disease (leukodystrophy).

The brain can become larger due to certain diseases like Alexander disease, later phases of the Tay-Sachs disease, and spongy degeneration of infancy.

It is possible to detect the signs of Alexander disease with Magnetic Resonance Imaging, which looks for specific changes in the brain that may be tell-tale signs for the disease.

There is a marked deficit in myelin formation in most infantile cases of Alexander disease, and sometimes in juvenile cases, particularly in the front (frontal lobes) of the brain's two hemispheres (cerebrum).

Instead, the unifying feature among all Alexander disease cases is the presence of abnormal protein aggregates known as "Rosenthal fibers" throughout certain regions of the brain and spinal cord (central nervous system [CNS]).