Ataxia Telangiectasia

Common Name(s)

Ataxia Telangiectasia, Ataxia-telangiectasia syndrome

Ataxia telangiectasia (A-T) is an inherited childhood disorder that causes degeneration in the part of the brain that controls motor movements and speech.  The condition is characterized by neurological signs, telangiectasias, susceptibility to infections and an increased risk of cancer. Mutations in the ATM gene cause ataxia-telangiectasia. The condition is inherited in an autosomal recessive pattern.  There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ataxia Telangiectasia" for support, advocacy or research.

A-T Children's Project

The A-T Children's Project was formed to raise funds through events and contributions from corporations, foundations and friends. These funds are used to accelerate first-rate, international scientific research aimed at finding a cure and improving the lives of all children with ataxia-telangiectasia.

Last Updated: 8 Jan 2013

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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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ataxia Telangiectasia" for support, advocacy or research.

A-T Children's Project

The A-T Children's Project was formed to raise funds through events and contributions from corporations, foundations and friends. These funds are used to accelerate first-rate, international scientific research aimed at finding a cure and improving the lives of all children with ataxia-telangiectasia.

http://www.atcp.org

Last Updated: 8 Jan 2013

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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

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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General Support Organizations

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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 "Ataxia Telangiectasia" returned 414 free, full-text research articles on human participants. First 3 results:

NADPH oxidase 4 is a critical mediator in Ataxia telangiectasia disease.
 

Author(s): Urbain Weyemi, Christophe E Redon, Towqir Aziz, Rohini Choudhuri, Daisuke Maeda, Palak R Parekh, Michael Y Bonner, Jack L Arbiser, William M Bonner

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Feb;112(7):2121-6.

 

Ataxia telangiectasia (A-T), a rare autosomal recessive disorder characterized by progressive cerebellar degeneration and a greatly increased incidence of cancer among other symptoms, is caused by a defective or missing ataxia telangiectasia mutated (ATM) gene. The ATM protein has ...

Last Updated: 18 Feb 2015

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Hepatitis B virus X stimulates redox signaling through activation of ataxia telangiectasia mutated kinase.
 

Author(s): Yasunobu Matsuda, Ayumi Sanpei, Toshifumi Wakai, Masayuki Kubota, Mami Osawa, Yuki Hirose, Jun Sakata, Takashi Kobayashi, Shun Fujimaki, Masaaki Takamura, Satoshi Yamagiwa, Masahiko Yano, Shogo Ohkoshi, Yutaka Aoyagi

Journal:

 

Hepatitis B virus X (HBX) protein plays a crucial role in carcinogenesis, but its mechanism is unclear. The involvement of ataxia telangiectasia mutated (ATM) kinase in the enhanced redox system was investigated by examining the phosphorylation level of ATM in HBX gene-transfected ...

Last Updated: 26 Jun 2014

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Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.
 

Author(s): Nora D Volkow, Dardo Tomasi, Gene-Jack Wang, Yana Studentsova, Brad Margus, Thomas O Crawford

Journal: Brain. 2014 Jun;137(Pt 6):1753-61.

 

Ataxia-telangiectasia is a recessive genetic disorder (ATM is the mutated gene) of childhood with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asymptomatic. Structural brain imaging and post-mortem studies in individuals with ataxia-telangiectasia ...

Last Updated: 26 May 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 "Ataxia Telangiectasia" returned 20 free, full-text review articles on human participants. First 3 results:

Recently emerging signaling landscape of ataxia-telangiectasia mutated (ATM) kinase.
 

Author(s): Ammad Ahmad Farooqi, Rukset Attar, Belkis Atasever Arslan, Mirna Azalea Romero, Muhammad Fahim ul Haq, Muhammad Imran Qadir

Journal: Asian Pac. J. Cancer Prev.. 2014 ;15(16):6485-8.

 

Research over the years has progressively and sequentially provided near complete resolution of regulators of the DNA repair pathways which are so important for cancer prevention. Ataxia-telangiectasia mutated kinase (ATM), a high-molecular-weight PI3K-family kinase has emerged as ...

Last Updated: 29 Aug 2014

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Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions.
 

Author(s): Mark Ambrose, Richard A Gatti

Journal: Blood. 2013 May;121(20):4036-45.

 

In 1988, the gene responsible for the autosomal recessive disease ataxia- telangiectasia (A-T) was localized to 11q22.3-23.1. It was eventually cloned in 1995. Many independent laboratories have since demonstrated that in replicating cells, ataxia telangiectasia mutated (ATM) is predominantly ...

Last Updated: 17 May 2013

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The role of the DNA damage response kinase ataxia telangiectasia mutated in neuroprotection.
 

Author(s): Konstantina Marinoglou

Journal: Yale J Biol Med. 2012 Dec;85(4):469-80.

 

It has been estimated that a human cell is confronted with 1 million DNA lesions every day, one fifth of which may originate from the activity of Reactive Oxygen Species (ROS) alone [1,2]. Terminally differentiated neurons are highly active cells with, if any, very restricted regeneration ...

Last Updated: 14 Dec 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients
 

Status: Not yet recruiting

Condition Summary: Ataxia Telangiectasia

 

Last Updated: 15 Mar 2010

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Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)
 

Status: Recruiting

Condition Summary: Ataxia Telangiectasia; Growth Failure

 

Last Updated: 2 Jul 2010

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Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia
 

Status: Not yet recruiting

Condition Summary: Ataxia-Telangiectasia (A-T)

 

Last Updated: 18 Sep 2014

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