Alexander disease

What causes Alexander disease?

The disease is caused by changes (mutations in the GFAP gene in about 90% of cases. This gene provides the instructions for making a protein called glial fibrillary acidic protein (GFAP). GFAP is a normal part of the brain, but it is not clear how mutations in the gene cause the disease. In most cases, the mutations are new in the family ( de novo ) and are not inherited from the parents. A small number of people who are thought to have Alexander disease are not found to have a mutation in the GFAP gene, which suggests that there may be other causes of Alexander disease that have yet to be identified.

Last updated on 05-01-20

What is the prognosis for individuals diagnosed with Alexander disease?

The prognosis for individuals with Alexander disease is generally poor and typically depends of the specific form. People with the neonatal form usually have the worst prognosis. Most children with the infantile form do not survive past the age of 6. The juvenile and adult forms of the disorder have a slower, more lengthy course. The adult form varies greatly and, in some cases, there are no symptoms.

Last updated on 05-01-20

What treatment is available for Alexander disease?

No specific therapy is currently available for Alexander disease. Management is supportive and includes attention to general care, physical and occupational therapy, nutritional requirements, antibiotic treatment for any infection, and antiepileptic drugs (AED) for seizure control.

Physical and occupational therapy and speech therapy may be recommended depending on the specific signs and symptoms present. Physical and occupational therapy may be indicated in people with developmental and language delays.

Last updated on 05-01-20

Management Guidelines

Guideline - Special health care needs

Johnson CP, Kastner TA. Helping families raise children with special health care needs at home. Pediatrics. 2005; 115(2):507-511.

Last updated on 04-27-20

Where To Start

United Leukodystrophy Foundation

The United Leukodystrophy Foundation has developed an information page on Alexander disease. Click on the link above to view this information page.

Last updated on 04-27-20

Name: United Leukodystrophy Foundation (ULF) 224 North Second Street Suite 2
DeKalb, IL, 60115 , United States
Phone: 815-748-3211 Toll Free: 800-728-5483 Fax : 815-748-0844 Email: Url:
Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States
Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: Url:
Name: Alex The Leukodystrophy Charity Alex TLC 45 Peckham High Street
London, SE15 5EB, United Kingdom
Phone: 020 7701 4388 Email: Url:
Name: European Association against Leukodystrophy ELA 2, rue Mi-les-Vignes BP 61024 54521
Laxou Cedex
Email: Url:
Alexander disease National Institute of Neurological Disorders and Stroke (NINDS). October, 22, 2012; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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