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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CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
 

Author(s): Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D'Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi, Massimo Zeviani

Journal:

 

We studied a family including two half-siblings, sharing the same mother, affected by slowly progressive, adult-onset neurological syndromes. In spite of the diversity of the clinical features, characterized by a mild movement disorder with cognitive impairment in the elder patient, ...

Last Updated: 16 May 2013

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Beneficial effects of Nrf2 overexpression in a mouse model of Alexander disease.
 

Author(s): Christine M LaPash Daniels, Elizabeth V Austin, Danica E Rockney, Elizabeth M Jacka, Tracy L Hagemann, Delinda A Johnson, Jeffrey A Johnson, Albee Messing

Journal: J. Neurosci.. 2012 Aug;32(31):10507-15.

 

Alexander disease is a fatal neurodegenerative disease caused by dominant mutations in glial fibrillary acidic protein (GFAP). The disease is characterized by protein inclusions called Rosenthal fibers within astrocyte cell bodies and processes, and an antioxidant response mediated ...

Last Updated: 2 Aug 2012

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Genetic ablation of Nrf2/antioxidant response pathway in Alexander disease mice reduces hippocampal gliosis but does not impact survival.
 

Author(s): Tracy L Hagemann, Emily M Jobe, Albee Messing

Journal: PLoS ONE. 2012 ;7(5):e37304.

 

In Alexander disease (AxD) the presence of mutant glial fibrillary acidic protein (GFAP), the major intermediate filament of astrocytes, triggers protein aggregation, with marked induction of a stress response mediated by the transcription factor, Nrf2. To clarify the role of Nrf2 ...

Last Updated: 13 Jun 2012

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.