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

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.
 

Author(s): Anne-Laure Renault, Noura Mebirouk, Eve Cavaciuti, Dorothée Le Gal, Julie Lecarpentier, Catherine Dubois d'Enghien, Anthony Laugé, Marie-Gabrielle Dondon, Martine Labbé, Gaetan Lesca, Dominique Leroux, Laurence Gladieff, Claude Adenis, Laurence Faivre, Brigitte Gilbert-Dussardier, Alain Lortholary, Jean-Pierre Fricker, Karin Dahan, Jacques-Olivier Bay, Michel Longy, Bruno Buecher, Nicolas Janin, Hélène Zattara, Pascaline Berthet, Audrey Combès, Isabelle Coupier, , Janet Hall, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur

Journal: Carcinogenesis. 2017 10;38(10):994-1003.

 

Recent studies have linked constitutive telomere length (TL) to aging-related diseases including cancer at different sites. ATM participates in the signaling of telomere erosion, and inherited mutations in ATM have been associated with increased risk of cancer, particularly breast ...

Last Updated: 31 Dec 1969

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[New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
 

Author(s): Felipe Ruiz-Botero, Juliet T Rodríguez-Guerrero

Journal: Rev Chil Pediatr. 2017 ;88(4):524-528.

 

The ataxia telangiectasia syndrome (AT) is a genetic disease with an autosomal recessive inheritance pattern, with multisystem involvement and a broad clinical spectrum. It is caused by the mutation of the ATM gene, causing reduction or absence of the ATM proteinkinase, altering processes ...

Last Updated: 31 Dec 1969

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Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?
 

Author(s): Talita Lemos Paulino, Marina Neto Rafael, Sonia Hix, David Carlos Shigueoka, Sergio Aron Ajzen, Cristiane Kochi, Fabíola Isabel Suano-Souza, Rosangela da Silva, Beatriz T Costa-Carvalho, Roseli O S Sarni

Journal:

 

Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. Insulin resistance (IR), type 2 diabetes and the risk for development of cardiovascular disease was recently associated as an extended phenotype of the disease. ...

Last Updated: 31 Dec 1969

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

The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research.
 

Author(s): Yanling Xu, Peng Gao, Xuejiao Lv, Lin Zhang, Jie Zhang

Journal: Ther Adv Respir Dis. 2017 09;11(9):375-380.

 

Lung cancer is the leading cause of death due to cancer worldwide. It is estimated that approximately 1.2 million new cases of lung cancer are diagnosed each year. Early detection and treatment are crucial for improvements in both prognosis and quality of life of lung cancer patients. ...

Last Updated: 31 Dec 1969

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Mechanisms of Non-canonical Activation of Ataxia Telangiectasia Mutated.
 

Author(s): S V Khoronenkova

Journal: Biochemistry Mosc.. 2016 Dec;81(13):1669-1675.

 

ATM is a master regulator of the cellular response to DNA damage. The classical mechanism of ATM activation involves its monomerization in response to DNA double-strand breaks, resulting in ATM-dependent phosphorylation of more than a thousand substrates required for cell cycle progression, ...

Last Updated: 31 Dec 1969

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Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.
 

Author(s): Mateusz Maciejczyk, Bozena Mikoluc, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Malgorzata Pac, Radosław Motkowski, Halina Car

Journal: Redox Biol. 2017 04;11():375-383.

 

Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia
 

Status: Recruiting

Condition Summary: Ataxia Telangiectasia

 

Last Updated: 29 Nov 2017

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Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia
 

Status: Recruiting

Condition Summary: Ataxia-Telangiectasia (A-T)

 

Last Updated: 23 Mar 2016

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