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

Ataxia-Telangiectasia-Mutated Protein Expression as a Prognostic Marker in Adenoid Cystic Carcinoma of the Salivary Glands.
 

Author(s): Shadavlonjid Bazarsad, Jue Young Kim, Xianglan Zhang, Ki Yeol Kim, Doo Young Lee, Mi Heon Ryu, Jin Kim

Journal: Yonsei Med. J.. 2018 Aug;59(6):717-726.

 

Adenoid cystic carcinoma (ACC) is a high-grade malignant tumor of the salivary glands, clinically characterized by multiple recurrences and late distant metastasis. Biological markers for assessing the prognosis of ACC have remained elusive. The purpose of this study was to investigate ...

Last Updated: 31 Dec 1969

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Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone.
 

Author(s): Michele Menotta, Sara Orazi, Anna Maria Gioacchini, Chiara Spapperi, Anastasia Ricci, Luciana Chessa, Mauro Magnani

Journal:

 

Ataxia telangiectasia (A-T) is an incurable and rare hereditary syndrome. In recent times, treatment with glucocorticoid analogues has been shown to improve the neurological symptoms that characterize this condition, but the molecular mechanism of action of these analogues remains ...

Last Updated: 31 Dec 1969

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Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia.
 

Author(s): Ruth Duecker, Patrick Baer, Olaf Eickmeier, Maja Strecker, Jennifer Kurz, Alexander Schaible, Dirk Henrich, Stefan Zielen, Ralf Schubert

Journal: Redox Biol. 2018 04;14():645-655.

 

Lung failure is responsible for significant morbidity and is a frequent cause of death in ataxia-telangiectasia (A-T). Disturbance in the redox balance of alveolar epithelial cells must be considered as a causal factor for respiratory disease in A-T. To investigate bronchoalveolar ...

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 29 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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Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
 

Author(s): Nienke J H van Os, Charlotte A Haaxma, Michiel van der Flier, Peter J F M Merkus, Marcel van Deuren, Imelda J M de Groot, Jan Loeffen, Bart P C van de Warrenburg, Michèl A A P Willemsen,

Journal: Dev Med Child Neurol. 2017 07;59(7):680-689.

 

Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual ...

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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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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