Ataxia telangiectasia classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Classification

So far there appear to be three forms of AT:

1. Pure AT where patients present with all/most of the diagnostic symptoms.
2. Attenuated AT where sufferers do not possess all of the diagnostic symptoms.
3. Carrier AT where individuals with a single ATM mutation show an increased risk of cancer (known since the 1970’s).

These are sometimes classified into ‘types’ from I to IV.

• Type I is the classic syndrome with all manifestations.
• Type II lacks some of the typical findings but shows radiosensitivity.
• Type III has the classic clinical findings but is not radiosensitive.
• Type IV shows only some clinical features and is not radiosensitive.