ataxia telangiectasia


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a·tax·i·a tel·an·gi·ec·ta·si·a

, ataxia-telangiectasia [MIM*208900]
an autosomal recessive multisystem disorder consisting of ataxia, ocular apraxia, hypotonia, proprioceptive sensory loss, areflexia, and choreoathetosis; onset typically in early childhood; systemic features include increased susceptibility to malignancies, conjunctival and cutaneous telangiectasia, and recurrent pulmonary infections due to immunodeficiencies. Caused by breaks on chromosome 11q at q22-q23, producing failure of DNA repair.

a·tax·ia tel·an·gi·ec·ta·si·a

(ă-tak'sē-ă tel-an'jē-ek-tā'zē-ă)
A slowly progressive multisystem disorder with ataxia appearing with the onset of walking; telangiectases of the conjunctiva and skin; athetosis and nystagmus; and recurrent infections of the respiratory system caused by immunoglobulin deficiencies. Approximately 70% of affected patients have an IgA deficiency concomitant with decreased T-helper cell function.

Louis-Bar,

Denise, mid-20th century Belgian neuropathologist.
Louis-Bar syndrome - an autosomal recessive disorder characterized by cerebellar ataxia and telangiectasia. Synonym(s): ataxia telangiectasia
References in periodicals archive ?
Serum alpha-fetoprotein levels in patients with ataxia telangiectasia.
Nicole, Natalie and their family have also received support from the Ataxia Telangiectasia Society and recently attended the charity's annual fun day in Nottingham.
For Glen suffers from the condition Ataxia Telangiectasia - AT - which affects his co-ordination and balance.
Glen suffers from the rare condition Ataxia Telangiectasia which means he is ultra-sensitive to the sun's radiation.
Christopher suffers from Ataxia Telangiectasia, commonly known as Louis Barr Syndrome after the scientist who discovered it.
effects of DNA damage and other stresses, which arrest cycling cells at specific checkpoints, and in which the ataxia telangiectasia gene ATM and p53 have major roles
QCI now includes comprehensive curation of the hereditary cancer literature and curated clinical case counts for common heritable cancers including breast and ovarian cancer, Lynch syndrome, Peutz-Jegher syndrome, ataxia telangiectasia, neurofibromatosis, hereditary diffuse gastric cancer, familial prostate cancer, polyposis, and many more.
Under the terms of the license agreement, CNIO has granted to Merck exclusive rights to develop and commercialize their new inhibitors of the ataxia telangiectasia and Rad3-related (ATR) kinase.
They further found that the "caretaker gene" known as ATM (for ataxia telangiectasia mutated) serves as a so-called stemness checkpoint, protecting against MSCs differentiation.
Lucy Pritchard, 17, of Rhostyllen, Wrexham, suffers from an extremely rare, life-limiting condition known as ataxia telangiectasia which affects co-ordination and the immune system.
A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls.

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