Table 1 Clinical characteristics of affected individuals from families consistent with linkage to AGS2.
| Family/patient | Ethnicity | Age at presentation | Birth OFC in centiles (gestation in weeks) | Postnatal OFC in centiles (age in months) | Brain calcification | CSF WCC/mm3* (age in months) | IFN‐α IU/ml in CSF/ serum† (age in months) |
|---|---|---|---|---|---|---|---|
| 1/IV:3 | Algerian | Birth | 2nd–9th (40) | <<0.4th (18) | PV; BG | 28 (1) | 100/NA (1) |
| 1/IV:4 | 2 months | 50th–75th (39) | <0.4th (44) | PV; BG | NA | NA | |
| 1/IV:5 | Prenatal | 75th (37) | 0.4th–2nd (2) | BG | NR | 25/NA (1) | |
| 2/V:1 | Algerian | 9 months | 75th–91st (40) | NR | BG | 43 (10) | 16/4 (10); <4/<2 (60) |
| 2/V:2 | 3 months | Normal | Normal | BG | 105 (5) | 60/8 (5) | |
| 3/IV:1 | Irish | 12 months | 50th (40) | 75th (108) | BG; WM | 16 (12); 8 (108) | <2/NA (108) |
| 3/IV:3 | <12 months | 50th (40) | 3rd (21) | BG; WM | 13 (1); 13 (21) | 25/<2 (21) | |
| 4/IV:1 | Moroccan | 7 months | NR | NR | BG | 8 (7) | 6/<2 (7) |
| 5/IV:1 | Italian | 2 months | 9th (40) | NR | BG | 25 (2) | >100/NA (2) |
| 6/II:1 | Dutch | 3 weeks | NR | <3rd (132) | BG; WM | 22 (8) | NA |
| 6/II:2 | 3 weeks | 9th (39) | 30th (84) | BG, WM | 13 (4) | 18/NA (3) | |
| 6/II:3 | 2–3 weeks | 25th–50th (38) | 30th (60) | BG | 13 (2) | 37/NA (48) | |
| 7/II:1 | French | 4 months | 75th–91st (40) | NR | BG | 0 (78) | <2/<2 (78) |
| 7/II:2 | 5 months | NR | NR | BG | 22 (6) | 32/12 (6) | |
| 7/II:3 | 8 months | NR | NR | BG | 39 (9) | 50/6 (9) | |
| 8/IV:1 | Spanish | 1 month | Normal | Microcephaly (18) | BG | 97 (24) | NA |
| 8/IV:3 | 10 days | Normal | Microcephaly (18) | BG | 38 (18) | NA |
BG, basal ganglia; CSF, cerebrospinal fluid; NA, not analysed; NR, not recorded; OFC, occipito‐frontal circumference; PV, periventricular; WCC, white cell count; WM, white matter.
*Abnormal ⩾5 cells/mm3; †normal levels <2 IU/l.