Figure 1. Western blot analysis of a lymphoblastic cell line from the patient's blood (column 11) demonstrates a greatly reduced level of ATM protein consistent with Ataxia Telangiectasia. Column 2 demonstrates complete absence of ATM protein in a patient with classic AT.
AOA2 (ataxia oculomotor apraxia type 2).
Figure 2. Patient's blood was exposed to 1 Gray of gamma rays. Chromosomal radiosensitivity of the T lymphocytes was exposed. There were 26 cells with 21 bits of damage compared with 8 bits of damage in the normal control in 50 cells consistent with a moderate increase in chromosomal radiosensitivity. In classic AT, a 5-10 fold increased level of gamma ray induced chromosome damage is expected.