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 43 free, full-text research articles on human participants. First 3 results:

Nitric oxide mediates glial-induced neurodegeneration in Alexander disease.
 

Author(s): Liqun Wang, Tracy L Hagemann, Hermann Kalwa, Thomas Michel, Albee Messing, Mel B Feany

Journal:

 

Glia play critical roles in maintaining the structure and function of the nervous system; however, the specific contribution that astroglia make to neurodegeneration in human disease states remains largely undefined. Here we use Alexander disease, a serious degenerative neurological ...

Last Updated: 26 Nov 2015

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Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene.
 

Author(s): Ki-Eun Chang, Drew Pratt, Bibhuti B Mishra, Nancy Edwards, Mark Hallett, Abhik Ray-Chaudhury

Journal: Clin. Neuropathol.. ;34(5):298-302.

 

Last Updated: 22 Aug 2015

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Adult-onset Alexander disease: could facial myokymia be a symptom?
 

Author(s): Rosana Herminia Scola, Paulo J Lorenzoni, Cláudia S K Kay, Lineu C Werneck

Journal: Arq Neuropsiquiatr. 2014 Nov;72(11):897-8.

 

Last Updated: 21 Nov 2014

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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 6 free, full-text review articles on human participants. First 3 results:

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: 30 Sep 2010

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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: 20 May 2010

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Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.
 

Author(s): Davide Pareyson, Roberto Fancellu, Caterina Mariotti, Silvia Romano, Andrea Salmaggi, Francesco Carella, Floriano Girotti, Grazietta Gattellaro, Maria Rita Carriero, Laura Farina, Isabella Ceccherini, Mario Savoiardo

Journal: Brain. 2008 Sep;131(Pt 9):2321-31.

 

Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary acidic protein (GFAP) gene as the causative gene, cases of adult-onset AD (AOAD) are being ...

Last Updated: 27 Aug 2008

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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: 19 Sep 2016

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