ataxia-telangiectasia (at) is an autosomal recessive disease characterized by telangiectasia, progressive ataxia, sinopulmonary infection, hypersensitivity to ionizing radiation, and a combined immunodeficiency, usually consisting of selective iga and igg, deficiencies, cutaneous anergy, and often depressed but not absent in vitro lymphocyte responsiveness. reviewing the medical records of 50 p...

The sensitivity to x-ray inactivation of cultured skin fibroblasts from clinically confirmed and suspected cases of ataxia telangiectasia was compared with that of cultures from normal subjects. The results confirm previous observations of an association between ataxia telangiectasia and enhanced in vitro radiosensitivity, and also suggest that clonal survival of x-irradiated cultures of skin f...

Several autosomal recessive diseases are associated with apparent DNA repair defects in cell culture. It seemed likely that a defect in excision repair reported for ataxia telangiectasia cells might reflect a lack of apurinic endonuclease activity. We report here normal levels of apurinic endonuclease activity in extracts of cell lines derived from patients with ataxia telangiectasia, xeroderma...

We observed two sisters with ataxia telangiectasia, one of whom developed an atypical subacute lymphocytic leukemia characterized by atypical lymphocytes and absence of palpable lymphadenopathy or hepatosplenomegaly. The lack of organomegaly in this patient may have been due to the underlying ataxia telangiectasia, which was associated with lymphoid hypoplasia. Cytogenetic studies showed a mark...

Ataxia telangiectasia (AT) is a rare genetic disease, still incurable, resulting from biallelic mutations in the ataxia telangiectasia-mutated (ATM) gene. Recently, short term treatment with glucocorticoid analogues improved neurological symptoms characteristic of this syndrome. Nevertheless, the molecular mechanism involved in glucocorticoid action in AT patients is not yet known. Here we desc...

Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three generations were affected by this disorder. Our index case is a 12-year-old female child, born of second degree consanguineous marriage diagno...

The sensitivity to x-ray inactivation of cultured skin fibroblasts from clinically confirmed and suspected cases of ataxia telangiectasia was compared with that of cultures from normal subjects. The results confirm previous observations of an association between ataxia telangiectasia and enhanced in vitro radiosensitivity, and also suggest that clonal survival of x-irradiated cultures of skin f...

Objective: This study aims to determine genotype-phenotype characteristics that can help diagnose hereditary ataxia, a rare disease. Methods: The findings of clinical, laboratory, electrophysiological, and magnetic resonance imaging thirteen patients with ataxia in the last five years were reported this study. Phenotypic expressions genetically proved mutation also reviewed. Results: We report ...

BACKGROUND Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT. CASE REPORT We report two AT patients with prominent myoclonus, illustrating an unusual presentation of this disorder. Sequencing of the ATM gene in the first patient revealed a homozygous...

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