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

Analysis of Residual DSBs in Ataxia-Telangiectasia Lymphoblast Cells Initiating Apoptosis.
 

Author(s): Teresa Anglada, Mariona Terradas, Laia Hernández, Anna Genescà, Marta Martín

Journal: Biomed Res Int. 2016 ;2016():8279560.

 

In order to examine the relationship between accumulation of residual DNA double-strand breaks (DSBs) and cell death, we have used a control and an ATM (Ataxia-Telangiectasia Mutated) defective cell line, as Ataxia-Telangiectasia (AT) cells tend to accumulate residual DSBs at long ...

Last Updated: 8 Apr 2016

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Enhanced gefitinib-induced repression of the epidermal growth factor receptor pathway by ataxia telangiectasia-mutated kinase inhibition in non-small-cell lung cancer cells.
 

Author(s): Keizo Misumi, Jiying Sun, Aiko Kinomura, Yoshihiro Miyata, Morihito Okada, Satoshi Tashiro

Journal: Cancer Sci.. 2016 Apr;107(4):444-51.

 

The epidermal growth factor receptor (EGFR) tyrosine kinase signaling pathways regulate cellular activities. The EGFR tyrosine kinase inhibitors (EGFR-TKIs) repress the EGFR pathway constitutively activated by somatic EGFR gene mutations and have drastically improved the prognosis ...

Last Updated: 15 Apr 2016

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Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases.
 

Author(s): Lamia Sfaihi, Dominique Stoppa Lyonnet, Salma Ben Ameur, Catherine Dubois D'enghien, Thouraya Kamoun, Mohamed Ridha Barbouch, Mongia Hachicha

Journal: Tunis Med. ;93(8-9):511-5.

 

Ataxia-telangiectasia (A-T) is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy.

Last Updated: 28 Jan 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 25 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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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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ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.
 

Author(s): Jayesh M Bhatt, Andrew Bush, Marjo van Gerven, Andreea Nissenkorn, Michael Renke, Lian Yarlett, Malcolm Taylor, Thomy Tonia, Adilia Warris, Stefan Zielen, Shairbanu Zinna, Peter J F M Merkus,

Journal: Eur Respir Rev. 2015 Dec;24(138):565-81.

 

Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations ...

Last Updated: 1 Dec 2015

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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: 26 Oct 2016

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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: 28 Mar 2017

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