Ataxia without telangiectasia

Movement Disorders : Official Journal of the Movement Disorder Society
J H Friedman, A Weitberg

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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Mar 1, 1996·Movement Disorders : Official Journal of the Movement Disorder Society·C KleinC D Marsden
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