Table 2.

Ataxia-Telangiectasia: Comparison of Classic A-T and Variant A-T by Select Features

FeatureClassic A-TVariant A-T
Neurologic Cerebellar ataxia +++, ±, −
Extrapyramidal movement disorder +++, ±, −
Peripheral neuropathy ++, ±, −
Dysarthria ++++
Dysphagia/feeding/nutrition issues ++±
Oculomotor apraxia +++, ±, −
Increased susceptibility to malignancy ++++
Abnormal cognition & behavior ±?
Immunodeficiency +Ab
Infection ±Ab
Pulmonary disease +Ab
Endocrine abnormalities Growth failure ++?
Abnormal puberty +±, −
Insulin resistance +±
Telangiectasias ++, ±, −

++ = always present; + = usually present; ± = sometimes present; − rarely present; Ab = absent; ? = although this feature has not been systematically studied in individuals with variant A-T, the authors feel that this is very uncommon in these individuals

From: Ataxia-Telangiectasia

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