Ataxia without telangiectasia
- 1 January 1993
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 8 (2) , 223-226
- https://doi.org/10.1002/mds.870080222
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 features were not stereotypic. This report describes a case that is classic except for the absence of telangiectasias through age 17. This and other cases suggest that a new, more inclusive term be used to describe the syndrome of ataxia with immune deficit until the genetic abnormalities in these disorders become identifiable.Keywords
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