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Ataxia without telangiectasia
Author(s) -
Friedman Joseph H.,
Weitberg Alan
Publication year - 1993
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870080222
Subject(s) - ataxia telangiectasia , ataxia , medicine , telangiectasia , neurological disorder , cerebellar ataxia , central nervous system disease , pediatrics , pathology , biology , genetics , psychiatry , dna , dna damage
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.