AIM To investigate glucose and insulin metabolism in participants with ataxia telangiectasia in the absence of a diagnosis of diabetes. METHODS A standard oral glucose tolerance test was performed in participants with ataxia telangiectasia (n = 10) and in a control cohort (n = 10). Serial glucose and insulin measurements were taken to permit cohort comparisons of glucose-insulin homeostasis a...

Subpopulations that are genetically predisposed to radiation-induced cancer could have significant public health consequences. Individuals homozygous for null mutations at the ataxia telangiectasia gene are indeed highly radiosensitive, but their numbers are very small. Ataxia Telangiectasia heterozygotes (1-2% of the population) have been associated with somewhat increased radiosensitivity for...

Ataxia telangiectasia is a progressive, neurodegenerative disease causing immunodeficiency, an increased risk of malignancy and respiratory disease, such as chronic sinopulmonary infection, aspiration, bronchiectasis and interstitial lung disease. The leading causes of premature death in ataxia telangiectasia are cancer and respiratory disease [1]. Published recommendations about management of ...

Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mildand late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genoty...

Ataxia telangiectasia is a progressive, neurodegenerative disease causing immunodeficiency, an increased risk of malignancy and respiratory disease, such as chronic sinopulmonary infection, aspiration, bronchiectasis and interstitial lung disease. The leading causes of premature death in ataxia telangiectasia are cancer and respiratory disease [1]. Published recommendations about management of ...

A case of ataxia telangiectasia in a 7 year-old boy associated with Hodgkin disease was presented. Abnormalities of motion along with repeated respiratory tract infections requiring hospitalization started when he was 2 years old. The patient was placed on MOPP protocol Hodgkin treatment in addition to replace­ment therapy as advised. 

BACKGROUND Ataxia-telangiectasia (A-T) is an autosomal recessive disease that consists of progressive cerebellar ataxia, variable immunodeficiency, sinopulmonary infections, oculocutaneous telangiectasia, radiosensitivity, early aging, and increased incidence of cancer. CASE REPORT We report the case of an 8-year-old boy affected by A-T. At 12 months of age, he had a waddling gait, with his u...

Ataxia telangiectasia (A-T) is a genetic syndrome characterized by cerebellar degeneration, telangiectasia, immunodeficiency and cancer predisposition. A-T occurs in between 1 in 40,000 and 1 in 100,000 live births. The first symptoms normally occur in early childhood when the infant begins to walk. Affected children have immunodeficiency and an increased predisposition for cancers. A-T is caus...