"Ataxia Telangiectasia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
| Descriptor ID |
D001260
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| MeSH Number(s) |
C10.228.140.252.190.530.060 C10.562.100 C10.597.350.090.500.530.060 C14.907.823.213 C16.320.080 C18.452.284.060 C20.673.290
|
| Concept/Terms |
Ataxia Telangiectasia- Ataxia Telangiectasia
- Ataxia-Telangiectasia
- Telangiectasia, Cerebello-Oculocutaneous
- Ataxia Telangiectasia Syndrome
- Syndrome, Ataxia Telangiectasia
- Louis-Bar Syndrome
- Louis Bar Syndrome
- Syndrome, Louis-Bar
|
Below are MeSH descriptors whose meaning is more general than "Ataxia Telangiectasia".
Below are MeSH descriptors whose meaning is more specific than "Ataxia Telangiectasia".
This graph shows the total number of publications written about "Ataxia Telangiectasia" by people in this website by year, and whether "Ataxia Telangiectasia" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 0 | 1 |
| 2000 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
| 2021 | 2 | 0 | 2 |
| 2025 | 1 | 0 | 1 |
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Below are the most recent publications written about "Ataxia Telangiectasia" by people in Profiles.
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Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis. EBioMedicine. 2025 Aug; 118:105840.
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Ataxia-telangiectasia mutated interacts with Parkin and induces mitophagy independent of kinase activity. Evidence from mantle cell lymphoma. Haematologica. 2021 02 01; 106(2):495-512.
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Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia. J Pediatr Hematol Oncol. 2021 01; 43(1):e138-e140.
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Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Clin Cancer Res. 2017 Jun 01; 23(11):e23-e31.
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Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci. 2015 Aug 15; 355(1-2):3-6.
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Targeting p38 mitogen-activated protein kinase signaling restores subventricular zone neural stem cells and corrects neuromotor deficits in Atm knockout mouse. Stem Cells Transl Med. 2012 Jul; 1(7):548-56.
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The critically ill patient with ataxia-telangiectasia: a case series. Pediatr Crit Care Med. 2012 Mar; 13(2):e84-90.
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Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia. Paediatr Anaesth. 2012 Mar; 22(3):256-62.
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DNA-dependent protein kinase and ataxia telangiectasia mutated (ATM) promote cell survival in response to NK314, a topoisomerase IIa inhibitor. Mol Pharmacol. 2011 Aug; 80(2):321-7.
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ATM promotes apoptosis and suppresses tumorigenesis in response to Myc. Proc Natl Acad Sci U S A. 2006 Jan 31; 103(5):1446-51.