Article
Ataxia without telangiectasia.
Movement disorders : official journal of the Movement Disorder Society - 1 Apr 1993
Friedman J H, Weitberg A
Abstract excerpt
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....
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