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  • Title: Ataxia without telangiectasia.
    Author: Friedman JH, Weitberg A.
    Journal: Mov Disord; 1993 Apr; 8(2):223-6. PubMed ID: 8474496.
    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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