What It Is
Alexander disease is a progressive, genetic, and fatal brain disorder that most commonly occurs in children. It leads to death usually within the first decade.
Alexander disease is classified as one of the leukodystrophies, or white matter diseases, causing abnormalities in myelin.
The classic hallmark of all forms of Alexander disease is the presence of Rosenthal fibers, abnormal inclusions in astrocytes that contain the intermediate filament protein GFAP. Mutations in the gene for GFAP (glial fibrillary acidic protein) cause Alexander disease, the first known example of a primary genetic disorder of astrocytes, one of the major cell types in the vertebrate CNS. The disease was first described by W. Stewart Alexander, a New Zealand pathologist, in 1949.
Rosenthal fibers are homogeneous masses which form elongated tapered rods scattered throughout the cortex and white matter of the brain. Rosenthal fibers are located in the astrocytes. Demyelination (loss of myelin, the insulation around nerves) is also a prominent feature of the disease.
The infantile form of the disease is characterized by megalencephaly (an abnormally large head), seizures, spasticity and developmental retardation. The disease will progress slowly with most children not surviving past 6 years old.
Patients with the juvenile and adult forms of Alexander disease typically experience ataxia and spasticity and a more slowly progressive course.
Treatments & Therapies
There is currently no cure for Alexander Disease. Treatment is symptomatic and supportive.
- The description of this disease is provided courtesy of the NIH, and other sources.
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