Alexander Disease

Common Name(s)

Alexander Disease

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. 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alexander Disease" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alexander Disease" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Alexander Disease" returned 47 free, full-text research articles on human participants. First 3 results:

MRI diagnosis of infantile Alexander disease in a 14 month old African boy.
 

Author(s): Nondumiso Dlamini, Vicci du Plessis

Journal:

 

Alexander disease, also known as fibrinoid leukodystrophy, is a rare leukoencephalopathy which occurs due to a mutation in the glial fibrillary acid protein (GFAP) gene. Magnetic resonance imaging (MRI) has proven to be highly sensitive in making the diagnosis. Typical MRI findings, ...

Last Updated: 31 Dec 1969

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The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease.
 

Author(s): Alexander A Sosunov, Guy M McKhann, James E Goldman

Journal:

 

Rosenthal fibers (RFs) are cytoplasmic, proteinaceous aggregates. They are the pathognomonic feature of the astrocyte pathology in Alexander Disease (AxD), a neurodegenerative disorder caused by heterozygous mutations in the GFAP gene, encoding glial fibrillary acidic protein (GFAP). ...

Last Updated: 31 Dec 1969

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Atypical MRI features in familial adult onset Alexander disease: case report.
 

Author(s): Yonghong Liu, Heng Zhou, Huabing Wang, Xiaoqing Gong, Anna Zhou, Lin Zhao, Xindi Li, Xinghu Zhang

Journal:

 

Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features.

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alexander Disease" returned 5 free, full-text review articles on human participants. First 3 results:

[An infant form of Alexander disease (a clinical case and literature review)].
 

Author(s): R A Vasin, M A Krasnikov, S V Vasina

Journal: Zh Vopr Neirokhir Im N N Burdenko. ;80(6):93-98.

 

We present a case of the infant form of Alexander disease. The case uniqueness is that the patient's examination had been started at the preclinical stage and was continued during the manifestation and fastigium of disease. We present rare images obtained during neurosonography at ...

Last Updated: 31 Dec 1969

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Strategies for treatment in Alexander disease.
 

Author(s): Albee Messing, Christine M LaPash Daniels, Tracy L Hagemann

Journal: Neurotherapeutics. 2010 Oct;7(4):507-15.

 

Alexander disease is a rare and generally fatal disorder of the CNS, originally classified among the leukodystrophies because of the prominent myelin deficits found in young patients. The most common form of this disease affects infants, who often have profound mental retardation ...

Last Updated: 31 Dec 1969

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Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.
 

Author(s): Michito Namekawa, Yoshihisa Takiyama, Junko Honda, Haruo Shimazaki, Kumi Sakoe, Imaharu Nakano

Journal:

 

Alexander disease (ALX) is a rare neurological disorder characterized by white matter degeneration and cytoplasmic inclusions in astrocytes called Rosenthal fibers, labeled by antibodies against glial fibrillary acidic protein (GFAP). Three subtypes are distinguished according to ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History and Outcome Measures in Alexander Disease
 

Status: Recruiting

Condition Summary: Alexander Disease

 

Last Updated: 20 Sep 2017

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