Figure 1: CNS dysfunctions in untreated ADA-SCID patients and under ERT.

Neurological alterations in untreated patients (n = 5) and patients under ERT aged <3yrs (n = 8) and >3yrs (n = 7). (a) Percentage of patients with motor dysfunction such as coordination or deambulation deficits, alterations of muscle tone and trophism. Manifestation of one of these deficits is represented in light grey bars for mild alterations, whereas two or more deficits are shown as severe alterations in dark grey. (b) Percentage of patients with EEG alterations. Light grey bars represent alteration in EEG, whereas concomitant manifestation of epilepsy was considered as severe alterations (dark grey). (c) Percentage of patients with auditory alterations. Peripheral hearing loss detected by alterations in BAER potentials are represented in light grey bars, whereas clinically relevant deficits requiring hearing devices are shown in dark grey. (d) Light grey bars indicate percentage of patients with WM alterations in MRI. Dark grey bars indicate percentage of patients with abnormal size of ventricular system and subarchnoid spaces. (e) Representative MRI axial Spin Echo T2 (left panel) and FLAIR (right panel) images of patient 12. Diffuse, moderate enlargement of subarachnoid spaces. Diffuse signal alterations, hyperintense in T2 and FLAIR images, are seen in frontal corona radiata and posterior periventricular white matter (WM). (f) Representative MRI axial Spin Echo T2 (left panel) and FLAIR (right panel) images of patient 16. Enlargement of lateral ventricles. Multiple punctiform signal abnormalities, hyperintense on T2 and FLAIR images are evident in bilateral periventricular WM.