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Genetic and Rare Diseases Information Center (GARD)

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Alexander disease


Other Names for this Disease

  • Alexanders leukodystrophy
  • Megalencephaly in infancy accompanied by progressive spasticity and dementia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My step-daughter was diagnosed with Alexander Disease less than a year ago. She is 2 years old. We were recently told that the disease is spreading to her pituitary gland. What impact will this have on the progression of the disease?  

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are the signs and symptoms of Alexander disease?

The symptoms of Alexander disease vary depending on the form of the condition (infantile, juvenile, and adult-onset). Even within the different forms there may be dramatic differences in respect to symptoms and severity.[1]

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 of Alexander disease is rare, but has been reported. The symptoms sometimes mimic those of Parkinson’s disease or multiple sclerosis.[2]

Alexander disease is also characterized by abnormal protein deposits known as Rosenthal fibers. These deposits are found in specialized cells called astroglial cells, which support and nourish other cells in the brain and spinal cord.[3]

The United Leukodystrophy Foundation provides additional details related to the symptoms of this condition.

Last updated: 9/21/2011

What is the prognosis for individuals diagnosed with Alexander disease?

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.[2]
Last updated: 9/21/2011

What impact might involvement of Alexander disease in the pituitary play in the disease process?

Our search of the medical literature identified just one case report which described pituitary involvement in Alexander disease. Case reports describe and discuss the clinical aspects of an individual with a condition.  It is important to keep in mind that the clinical findings described in case reports are based only on specific individuals and may differ from one affected person to another.  We strongly recommend you discuss with your physician any articles that interest you.

The case was characterized by early (late infantile) onset with seizures and asymmetric ventriculomegaly. Mild psychomotor delay was noted to be progressive. Over time, hemiparesis (weakness on one side of the body) and spasticity developed. Extracellular aggregates containing glial fibrillary acidic protein (GFAP) - Rosenthal fibers - were identified in neurohypophyseal pituicytes (a pituicyte is a glial cell of the posterior pituitary). The child died at age 12 after an aspiration episode. To read more about the case study, click here.    

You can access this and other relevant articles on Alexander disease through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using 'Alexander disease[ti]' as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search.
http://www.ncbi.nlm.nih.gov/PubMed

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link . You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

Last updated: 9/22/2011

References
Other Names for this Disease
  • Alexanders leukodystrophy
  • Megalencephaly in infancy accompanied by progressive spasticity and dementia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.