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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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

Last Updated: 12 Oct 2013

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

Ataxia-telangiectasia with novel splicing mutations in the ATM gene.
 

Author(s): Heejeong Jeong, Hee Jae Huh, Jinyoung Youn, Ji Sun Kim, Jin Whan Cho, Chang-Seok Ki

Journal: Ann Lab Med. 2014 Jan;34(1):80-4.

 

Last Updated: 14 Jan 2014

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Inhibition of ataxia telangiectasia mutated (ATM) kinase suppresses herpes simplex virus type 1 (HSV-1) keratitis.
 

Author(s): Oleg Alekseev, Kelly Donovan, Jane Azizkhan-Clifford

Journal:

 

Herpes keratitis (HK) remains the leading cause of cornea-derived blindness in the developed world, despite the availability of effective antiviral drugs. Treatment toxicity and the emergence of drug resistance highlight the need for additional therapeutic approaches. This study examined ...

Last Updated: 4 Feb 2014

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Mutation at intronic repeats of the ataxia-telangiectasia mutated (ATM) gene and ATM protein loss in primary gastric cancer with microsatellite instability.
 

Author(s): Hee Sung Kim, Seung Im Choi, Hae Lim Min, Min A Kim, Woo Ho Kim

Journal:

 

Ataxia-telangiectasia mutated (ATM) is a Ser/Thr protein kinase that plays a critical role in DNA damage-induced signaling and initiation of cell cycle checkpoint signaling in response to DNA-damaging agents such as ionizing radiation. We have previously reported the ATM protein loss ...

Last Updated: 10 Dec 2013

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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:

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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Ataxia-telangiectasia mutated and the Mre11-Rad50-NBS1 complex: promising targets for radiosensitization.
 

Author(s): Shinji Kuroda, Yasuo Urata, Toshiyoshi Fujiwara

Journal: Acta Med. Okayama. 2012 ;66(2):83-92.

 

Radiotherapy plays a central part in cancer treatment, and use of radiosensitizing agents can greatly enhance this modality. Although studies have shown that several chemotherapeutic agents have the potential to increase the radiosensitivity of tumor cells, investigators have also ...

Last Updated: 24 Apr 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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