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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization.
 

Author(s): Silmara Rondon-Melo, Isabel Junqueira de Almeida, Claudia Regina Furquim de Andrade, Fernanda Chiarion Sassi, Daniela Regina Molini-Avejonas

Journal:

 

BACKGROUND The body of literature on oral motor and swallowing disorders in patients with ataxia telangiectasia (AT) is limited. CASE REPORT The purpose of this study was to characterize oral motor and swallowing disorders in two siblings with AT, based on oral motor and swallowing ...

Last Updated: 31 Dec 1969

Go To URL
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: 31 Dec 1969

Go To URL
Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T).
 

Author(s): Niraj Bhatt, Rajib Ghosh, Sanchita Roy, Yongxing Gao, Mary Armanios, Linzhao Cheng, Sonia Franco

Journal: Stem Cell Res. 2016 Sep;17(2):205-207.

 

Peripheral blood was obtained from a 12-year old male carrying bialleleic inactivating mutations at the ATM locus, causing Ataxia-Telangiectasia (A-T). Blood erythroid cells were briefly expanded in vitro and induced pluripotent stem cells (iPSCs) were generated via transfection with ...

Last Updated: 31 Dec 1969

Go To URL

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 27 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: 31 Dec 1969

Go To URL
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 Apr;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

Go To URL
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: 31 Dec 1969

Go To URL
 
 
Top

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

Go to URL
Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia
 

Status: Recruiting

Condition Summary: Ataxia-Telangiectasia (A-T)

 

Last Updated: 23 Mar 2016

Go to URL
EDS in Ataxia Telangiectasia Patients
 

Status: Recruiting

Condition Summary: Nervous System Disease; Genetic Syndrome

 

Last Updated: 27 Oct 2017

Go to URL