Ataxia without telangiectasia
Identifieur interne : 003469 ( Istex/Corpus ); précédent : 003468; suivant : 003470Ataxia without telangiectasia
Auteurs : Friedman ; Alan WeitbergSource :
- Movement Disorders [ 0885-3185 ] ; 1993.
English descriptors
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.
Url:
DOI: 10.1002/mds.870080222
Links to Exploration step
ISTEX:5B29797EDDEAE569B8ABB82E7DB51F7214BC051DLe document en format XML
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