Ataxia without telangiectasia

Authors

  • Dr. Joseph H. Friedman,

    Corresponding author
    1. Department of Neurology Roger Williams Medical Center, Providence, Rhode Island
    • Department of Neurology, Roger Williams Medical Center, 50 Maude Street, Providence, RI 02908, U.S.A
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  • Alan Weitberg

    1. Department of Medicine, Roger Williams Medical Center, Providence, Rhode Island
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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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