## Abstract Ataxia telangiectasia (AT) is an autosomal recessive hereditary disorder characterized by onset in infancy or childhood of a cerebellar and later extrapyramidal disorder associated with telangiectasias and an immune deficit. Only a handful of cases have been described in which the featu
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Ataxia telangiectasia and signal transduction
β Scribed by Mira Jung
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 629 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1065-7541
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We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both the horizontal and vertical planes. Although the neurological signs were indistinguishable from those of ataxia-telangiectasia, the onset tended to be later and none of the pa