NINDS Alexander Disease Information Page

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What is Alexander Disease?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations

What is Alexander Disease?

Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the “white matter” that protects nerve fibers in the brain. Alexander disease is a progressive and usually fatal disease.  The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes.  Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease.  The infantile form is the most common type of Alexander disease.  It has an onset during the first two years of life.  Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease is less common and has an onset between the ages of two and thirteen.  These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control.  Adult-onset forms of Alexander disease are rare, but have been reported.  The symptoms sometimes mimic those of Parkinson’s disease or multiple sclerosis. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution.

Is there any treatment?

There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive.

What is the prognosis?

The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6. Juvenile and adult onset forms of the disorder have a slower, more lengthy course.

What research is being done?

Recent discoveries show that most individuals (approximately 90 percent) with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP). GFAP is found in Rosenthal fibers; however it is still unclear how the mutation causes the disease.  Most of the mutations occur without any known cause and are not inherited from parents.  However, there are some people with Alexander disease who do not have the GFAP mutation, which leads researchers to believe that there may be other genetic or perhaps even non-genetic causes of Alexander disease. Current research is aimed at identifying additional mutations in GFAP that may be responsible for Alexander disease, understanding the mechanisms by which the mutations cause disease, and developing better mouse models for the disorder that could ultimately be used for testing treatments. At present, there is no exact animal model for the disease; however, mice have been engineered to produce the same mutant forms of GFAP found in individuals with Alexander disease.  These mice form Rosenthal fibers and have a predisposition for seizures, but do not yet mimic all features of the human disease.

Select this link to view a list of studies currently seeking patients.

Organizations

National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT   06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL   60178
office@ulf.org
http://www.ulf.org
Tel: 815-895-3211 800-728-5483
Fax: 815-895-2432



Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



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Last updated November 20, 2007