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 ?
Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation?
The first report of a family with ataxia telangiectasia is attributed to Syllaba and Henner (1926).
Chessa, "l-carnitine enhances resistance to oxidative stress by reducing DNA damage in Ataxia telangiectasia cells," Mutation Research/Genetic Toxicology and Environmental Mutagenesis, vol.
Caffeine inhibits activation of ataxia telangiectasia mutated (ATM), and ataxia telangiectasia and Rad3 related (ATR) proteins.
1995) DNA-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product.
The Ataxia Telangiectasia Mutated (ATM) gene is one candidate for such a susceptibility gene.
Farr AK , Shalev B , Crawford TO , Lederman HM , Winkelstein JA , Repka MX: Ocular manifestations of ataxia telangiectasia.
The 10-year-old was diagnosed with Ataxia Telangiectasia, or AT, and symptoms can include developing grey hair at a young age.
Lucy Annabell Pritchard, 22, suffered with Ataxia Telangiectasia, a rare neurological condition which meant she used a wheelchair from the age of 12.
Alex, who has the degenerative condition, Ataxia Telangiectasia, was nominated following the inspirational talks he has given to primary school pupils in the Vale of Glamorgan about his love of rugby.
Nineteen international researchers contribute 11 chapters reporting the latest findings on ataxia telangiectasia (AT), an incurable, rare autosomal recessive genetic disorder affecting approximately one in 40,000-100,000 people.
While her friends are enjoying their teenage years, 16-year-old Natalie acts as a surrogate mum to wheelchair-bound Nicole, who has a very rare, degenerative condition called ataxia telangiectasia.

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