Learn About Alexander Disease

What is the definition of Alexander Disease?

Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired.

Save information for later
Sign Up
What are the causes of Alexander Disease?

Mutations in the GFAP gene cause Alexander disease. The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. Several molecules of this protein bind together to form intermediate filaments, which provide support and strength to cells. Mutations in the GFAP gene lead to the production of a structurally altered glial fibrillary acidic protein. The altered protein is thought to impair the formation of normal intermediate filaments. As a result, the abnormal glial fibrillary acidic protein likely accumulates in astroglial cells, leading to the formation of Rosenthal fibers, which impair cell function. It is not well understood how impaired astroglial cells contribute to the abnormal formation or maintenance of myelin, leading to the signs and symptoms of Alexander disease.

How prevalent is Alexander Disease?

The prevalence of Alexander disease is unknown. About 500 cases have been reported since the disorder was first described in 1949.

Is Alexander Disease an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Who are the top Alexander Disease Local Doctors?
Highly rated in

Graduate School Of Medical Science

Kyoto, JP 60285

Tomokatsu Yoshida is in Kyoto, Japan. Yoshida is rated as an Elite expert by MediFind in the treatment of Alexander Disease. They are also highly rated in 3 other conditions, according to our data. Their top areas of expertise are Alexander Disease, CACH Syndrome, Leukodystrophy, and Dysarthria.

Highly rated in

Buerger Center For Advanced Pediatric Care

3500 Civic Center Blvd 
Philadelphia, PA 19104

Amy Waldman is a Neurologist and a Pediatrics doctor in Philadelphia, Pennsylvania. Dr. Waldman has been practicing medicine for over 20 years and is rated as a Distinguished doctor by MediFind in the treatment of Alexander Disease. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Alexander Disease, Multiple Sclerosis, Leukodystrophy, and Optic Neuritis. She is licensed to treat patients in Pennsylvania. Dr. Waldman is currently accepting new patients.

Learn about our expert tiers
Learn more
Highly rated in

IRCCS Istituto Giannina Gaslini

Uosd Laboratory Of Genetics And Genomics Of Rare Diseases 
Genoa, IT 

Isabella Ceccherini is in Genoa, Italy. Ceccherini is rated as a Distinguished expert by MediFind in the treatment of Alexander Disease. She is also highly rated in 26 other conditions, according to our data. Her top areas of expertise are Congenital Central Hypoventilation Syndrome, Alexander Disease, Total Intestinal Aganglionosis, and Hirschsprung Disease.

What are the latest Alexander Disease Clinical Trials?
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Match to trials
Find the right clinical trials for you in under a minute
Get started
Clinical, Instrumental and Laboratory Data Collection of Subjects With Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
Who are the sources who wrote this article ?

Published Date:updated Last, October

Published By: National Institutes of Health

What are the Latest Advances for Alexander Disease?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.