✦ LIBER ✦

Ataxia without telangiectasia

✍ Scribed by Dr. Joseph H. Friedman; Alan Weitberg

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 345 KB
Volume: 8
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.870080222

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✦ Synopsis

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.

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