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.

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

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
 

Author(s): Gavin Charlesworth, Mahavir D Mohire, Susanne A Schneider, Maria Stamelou, Nicholas W Wood, Kailash P Bhatia

Journal: Neurology. 2013 Sep;81(13):1148-51.

 

To identify the cause of cervical dopa-responsive dystonia (DRD) in a Muslim Indian family inherited in an apparently autosomal recessive fashion, as previously described in this journal.

Last Updated: 24 Sep 2013

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Chromosome instability and oxidative stress markers in patients with ataxia telangiectasia and their parents.
 

Author(s): Luciane Bitelo Ludwig, Victor Hugo Valiati, Roberta Passos Palazzo, Laura Bannach Jardim, Darlan Pase da Rosa, Silvia Bona, Graziela Rodrigues, Norma Possa Marroni, Daniel Prá, Sharbel Weidner Maluf

Journal: Biomed Res Int. 2013 ;2013():762048.

 

Ataxia telangiectasia (AT) is a rare neurodegenerative disorder, inherited in an autosomal recessive manner. Total blood samples were collected from 20 patients with AT, 13 parents of patients, and 17 healthy volunteers. This study aimed at evaluating the frequency of chromosomal ...

Last Updated: 12 Aug 2013

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Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.
 

Author(s): Yu Huang, Lu Yang, Jianchun Wang, Fan Yang, Ying Xiao, Rongjun Xia, Xianhou Yuan, Mingshan Yan

Journal: Neuromolecular Med.. 2013 Sep;15(3):536-40.

 

Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized mainly by progressive cerebellar ataxia, oculocutaneous telangiectasia, and immunodeficiency. This disease is caused by mutations of the ataxia telangiectasia mutated (Atm) gene. More than 500 Atm mutations ...

Last Updated: 5 Aug 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 17 free, full-text review articles on human participants. First 3 results:

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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Ataxia-telangiectasia mutated kinase (ATM) as a central regulator of radiation-induced DNA damage response.
 

Author(s): Ales Tichý, Jirina Vávrová, Jaroslav Pejchal, Martina Rezácová

Journal: Acta Medica (Hradec Kralove). 2010 ;53(1):13-7.

 

Ataxia-telangiectasia mutated kinase (ATM) is a DNA damage-inducible protein kinase, which phosphorylates plethora of substrates participating in DNA damage response. ATM significance for the cell faith is undeniable, since it regulates DNA repair, cell-cycle progress, and apoptosis. ...

Last Updated: 7 Jul 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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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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International Ataxia Rating Scale in Younger Patients
 

Status: Recruiting

Condition Summary: Ataxia Telangiectasia

 

Last Updated: 17 Jan 2014

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