Ataxia without telangiectasia

Mov Disord. 1993 Apr;8(2):223-6. doi: 10.1002/mds.870080222.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Ataxia Telangiectasia / classification
  • Ataxia Telangiectasia / diagnosis
  • Ataxia Telangiectasia / genetics*
  • Diagnosis, Differential
  • Humans
  • Male
  • Neurologic Examination
  • Phenotype*
  • Terminology as Topic