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

A new ataxia-telangiectasia mutation in an 11-year-old female.
 

Author(s): Esmaeil Mortaz, Sayed Mehran Marashian, Hosseinali Ghaffaripour, Mohammad Varahram, Payam Mehrian, Atosa Dorudinia, Johan Garssen, Ian M Adcock, Malcolm Taylor, Seyed Alireza Mahdaviani

Journal: Immunogenetics. 2017 Jul;69(7):415-419.

 

Ataxia-telangiectasia (A-T), a rare inherited disorder, usually affects the nervous and immune systems, and occasionally other organs. A-T is associated mainly with mutations in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase that has a major role in the ...

Last Updated: 10 May 2017

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Ataxia telangiectasia mutated (ATM) interacts with p400 ATPase for an efficient DNA damage response.
 

Author(s): Rebecca J Smith, Matthew S Savoian, Lauren E Weber, Jeong Hyeon Park

Journal:

 

Ataxia telangiectasia mutated (ATM) and TRRAP proteins belong to the phosphatidylinositol 3-kinase-related kinase family and are involved in DNA damage repair and chromatin remodeling. ATM is a checkpoint kinase that is recruited to sites of DNA double-strand breaks where it phosphorylates ...

Last Updated: 5 Nov 2016

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Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2-mediated antioxidant response.
 

Author(s): Sara Biagiotti, Michele Menotta, Sara Orazi, Chiara Spapperi, Serena Brundu, Alessandra Fraternale, Marzia Bianchi, Luigia Rossi, Luciana Chessa, Mauro Magnani

Journal: FEBS J.. 2016 Nov;283(21):3962-3978.

 

Ataxia telangiectasia (A-T) is a rare incurable neurodegenerative disease caused by biallelic mutations in the gene for ataxia-telangiectasia mutated (ATM). The lack of a functional ATM kinase leads to a pleiotropic phenotype, and oxidative stress is considered to have a crucial role ...

Last Updated: 16 Sep 2016

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

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: 6 Mar 2017

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Ataxia telangiectasia: a review.
 

Author(s): Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman

Journal:

 

Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome.

Last Updated: 25 Nov 2016

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Single Nucleotide Polymorphism rs1801516 in Ataxia Telangiectasia-Mutated Gene Predicts Late Fibrosis in Cancer Patients After Radiotherapy: A PRISMA-Compliant Systematic Review and Meta-Analysis.
 

Author(s): Yuyu Zhang, Ziling Liu, Mengmeng Wang, Huimin Tian, Keju Su, Jiuwei Cui, Lihua Dong, Fujun Han

Journal: Medicine (Baltimore). 2016 Apr;95(14):e3267.

 

Studies on associations between ataxia telangiectasia-mutated (ATM) polymorphisms and late radiotherapy-induced adverse events vary in clinical settings, and the results are inconsistent.We conducted the first meta-analysis following Preferred Reporting Items for Systematic Reviews ...

Last Updated: 9 Apr 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone
 

Status: Recruiting

Condition Summary: Ataxia-Telangiectasia

 

Last Updated: 25 Jul 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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EDS in Ataxia Telangiectasia Patients
 

Status: Recruiting

Condition Summary: Nervous System Disease; Genetic Syndrome

 

Last Updated: 27 Oct 2017

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