What is Alexander Disease?

DESCRIPTION: Alexander disease is a rare, genetic, degenerative disorder of the nervous system. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering--which acts as an insulator--on nerve fibers in the brain. Alexander disease, which affects mostly males, usually begins at about 6 months of age. Symptoms may include mental and physical retardation, dementia, enlargement of the brain and head, spasticity (stiffness of arms and/or legs), and seizures. In addition to the infantile form, juvenile and adult onset forms of the disorder have been reported. These forms occur less frequently and have a longer course of progression.

Is there any treatment?

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?

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. In the juvenile form death usually occurs within 10 years after the onset of symptoms.

What Research is Being Done?

RESEARCH: The NINDS supports research on genetic disorders including leukodystrophies such as Alexander disease. The goals of this research are to find ways to prevent, treat, and, ultimately, cure these disorders.

Where can I find more information?

These articles, available from a medical library, are sources of in-depth information on Alexander disease:

Arend, A, Leary, P, and Rutherford, G. "Alexander Disease: A Case Report with Brain Biopsy, Ultrasound, CT Scan, and MRI Findings." Clinical Neuropathology, 10:3; 122-126 (1991).

Bobele, G, et al. "Neuroimaging Findings in Alexander Disease." Journal of Child Neurology, 5:253-258 (July 1990).

Magalini, S, et al (eds). Dictionary of Medical Syndromes, 3rd edition, J.B. Lippincott Co., Philadelphia, pp. 33-34 (1990).

Rowland, L (ed). Merritt's Textbook of Neurology, 9th edition, Williams & Wilkins, Baltimore, pp. 521t, 600-601 (1995).

Schuster, V, Horwitz, A, and Kreth, H. "Alexander Disease: Cranial MRI and Ultrasound Findings." Pediatric Radiology, 21:133-134 (1991).

Shah, M, and Ross, J. "Infantile Alexander Disease: MR Appearance of a Biopsy-Proved Case." American Journal of Neuroradiology, 11:1105-1106 (November/December 1990).

Additional information is available from the following organizations:

Nat. Org. for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
(800) 999-6673

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
(815) 895-3211
(800) 728-5483

Information provided by NIH.