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Alexander disease
Other Names for this Disease
- Alexanders leukodystrophy
- Megalencephaly in infancy accompanied by progressive spasticity and dementia
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Overview
Alexander disease is a type of leukodystrophy. It is characterized by the destruction of white matter in the brain and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an enlarged brain and head, seizures, stiffness in the arms and/or legs, mental retardation, and delayed physical development. Less frequently, onset occurs later in childhood (the juvenile form) or adulthood. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, and poor coordination.[1][2] Alexander disease is caused by mutations in the GFAP gene. While this condition is inherited in an autosomal dominant fashion, most cases result from new mutations in the gene.[1]
References
- Alexander disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=alexanderdisease. Accessed September 21, 2011.
- Alexander disease. National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm. Accessed September 21, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Alexander disease have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Alexander disease. Click on the link to go to GHR and review the information.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Alexander disease. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Alexander disease. Click on the link to go to OMIM and review these resources.
- The Waisman Center has an resource page on Alexander disease. Click on Waisman Center to view the information page.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.