Ataxia without telangiectasia.
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.
Friedman
J H
JH
Department of Neurology, Roger Williams Medical Center, Providence, Rhode Island 02908.
Weitberg
A
A
D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D010641:Phenotype; D009626:Terminology as Topic