Although abnormal eye movements are a prominent feature of ataxia telangiectasia, the characteristics of the oculomotor dysfunction in the disease have been reported only in small groups of patients. We have examined eye movements clinically in 56 patients with ataxia telangiectasia, and obtained el
Heterogeneity of immunological abnormalities in ataxia-telangiectasia
โ Scribed by Massimo Fiorilli; Luisa Businco; Franco Pandolfi; Roberto Paganelli; Giandomenico Russo; Fernando Aiuti
- Publisher
- Springer
- Year
- 1983
- Tongue
- English
- Weight
- 795 KB
- Volume
- 3
- Category
- Article
- ISSN
- 0271-9142
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Two of three brothers with the classical signs of ataxia telangiectasia were investigated for their immunological disorders at the ages of 13 and 16 years, respectively. The elder brother also suffers from autoimmune hemolytic anemia, a complication which has not yet been described in the course of
## Abstract Ataxia telangiectasia (AT) is a human autosomal recessive disorder in which patients show a marked predisposition to malignant disease and cytogenetic abnormalities. We report here the levels of spontaneously occurring chromosome aberrations and particularly the presence of cytogenetica