Other Names for this Disease
- Alexanders leukodystrophy
- Megalencephaly in infancy accompanied by progressive spasticity and dementia
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leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) 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. 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.Alexander disease is a type of
Last updated: 12/29/2015
- Alexander disease. Genetics Home Reference. October, 2015; http://ghr.nlm.nih.gov/condition=alexanderdisease. Accessed 10/31/2015.
- Alexander disease. National Institute of Neurological Disorders and Stroke (NINDS). October, 22, 2012; http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm. Accessed 10/31/2015.
- Genetics Home Reference (GHR) contains information on Alexander disease. This website is maintained by the National Library of Medicine.
- 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.
- The United Leukodystrophy Foundation has developed an information page on Alexander disease. Click on the link above to view this information page.
- The Waisman Center has an resource page on Alexander disease.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.