Table 1. Characteristics and TSC-specific brain abnormalities of 64 patients with an inactivating TSC1 or TSC2 variant.
| TSC1 (n=21) | TSC2 (n=43) | TSC2p (n=19) | TSC2x (n=24) | |
|---|---|---|---|---|
| Age at MRI (years) | 7.3 (2.15–15.5) | 7 (1.4–17) | 6.9 (1.8–9.9) | 7.3 (1.4–17) |
| Gender male, n (%) | 12 (57) | 20 (47) | 6 (38) | 14 (52) |
| Inheritance, n (%) | ||||
| Familial | 4 (19) | 8 (19) | 7 (37) | 1 (4) |
| De novo | 12 (57) | 28 (65) | 7 (37) | 21 (88) |
| Cortical tubers | ||||
| Total number | 8 (0–36) | 41 (2–98) | 21 (5–95) | 45 (2–98) |
| Total surface area (mm2) | 304 (0–1138) | 2105 (85–5552) | 1089 (155–5552) | 2677 (85–4435) |
| Numbers of tubers in: | ||||
| Right hemisphere | 4 (0–22) | 20 (1–53) | 14 (2–52) | 23 (1–53) |
| Left hemisphere | 4 (0–17) | 18 (0–45) | 11 (0–43) | 22 (1–45) |
| Frontal lobe | 5 (0–19) | 21 (2–54) | 13 (3–54) | 23 (2–53) |
| Parietal lobe | 2 (0–7) | 7 (0–28) | 5 (0–28) | 8 (0–19) |
| Temporal lobe | 1 (0–8) | 5 (0–17) | 3 (0–10) | 6 (0–17) |
| Occipital lobe | 0 (0–3) | 2 (0–16) | 2 (0–10) | 3 (0–16) |
| Fraction of tubers in: | ||||
| Right hemisphere | 0.5 (0.0–1) | 0.51 (0.17–1) | 0.53 (0.28–1.0) | 0.51 (0.17–0.70) |
| Left hemisphere | 0.5 (0.0–1) | 0.49 (0.0–0.83) | 0.47 (0.0–0.72) | 0.49 (0.30–0.83) |
| Frontal lobe | 0.54 (0.0–1) | 0.57 (0.39–1) | 0.60 (0.42–1.0) | 0.56 (0.39–1.0) |
| Parietal lobe | 0.25 ((0.0–1) | 0.19 (0.0–0.5) | 0.24 (0.0–0.50) | 0.17 (0.0–0.40) |
| Temporal lobe | 0.07 (0.0–0.4) | 0.13 (0.0–0.43) | 0.08 (0.0–0.23) | 0.16 (0.0–0.43) |
| Occipital lobe | 0.0 (0.0–1) | 0.08 (0.0–0.26) | 0.08 (0.0–0.17) | 0.09 (0.0–0.26) |
| Cystic tubers present, n (%) | 3 (14) | 20 (47) | 4 (25) | 16 (59) |
| Calcified tubers present, n (%) | 4 (19) | 7 (16) | 4 (25) | 3 (11) |
| Radial migration lines | ||||
| Total number | 11 (2–36) | 16 (0–36) | 11 (0–36) | 24 (0–36) |
| Fraction associated with tuber | 0.71 (0.0–1.0) | 0.46 (0.0–0.8) | 0.45 (0.0–0.80) | 0.47 (0.0–0.71) |
| Cystic RMLs present, n (%) | 1 (5) | 8 (19) | 4 (25) | 4 (15) |
| Calcified RMLs present, n (%) | 4 (19) | 8 (19) | 4 (25) | 4 (15) |
| Subependymal giant cell astrocytoma | ||||
| Present, n (%) | 0 (0) | 7 (16) | 2 (13) | 5 (19) |
| Subependymal nodules | ||||
| Total number | 6 (0–11) | 8 (0–25) | 6 (0–15) | 9 (0–25) |
| Ventricle frontal horn | 0 (0–4) | 2 (0–11) | 1 (0–4) | 3 (0–11) |
| Ventricle caudothalamic groove | 1 (0–5) | 3 (0–7) | 2 (0–7) | 3 (0–7) |
| Ventricle posterior horn | 2 (0–5) | 3 (0–11) | 3 (0–4) | 4 (0–11) |
| Fraction of SENs in: | ||||
| Ventricle frontal horn | 0.06 (0.0–0.57) | 0.29 (0.0–0.67) | 0.25 (0.0–0.40) | 0.33 (0.0–0.67) |
| Ventricle caudothalamic groove | 0.28 (0.0–1.0) | 0.27 (0.0–0.67) | 0.22 (0.0–0.64) | 0.29 (0.0–0.67) |
| Ventricle posterior horn | 0.46 (0.0–1.0) | 0.4 (0.0–1.0) | 0.43 (0.25–1.0) | 0.40 (0.0–0.75) |
| Cystic SENs present, n (%) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
| Calcified SENs present, n (%) | 4 (19) | 18 (42) | 6 (38) | 12 (44) |
Abbreviations: MRI, magnetic resonance imaging; RML, radial migration line; SEN, subependymal nodule; TSC, Tuberous Sclerosis Complex.
Numbers are median (range) unless otherwise specified. Fractions are determined in patients in whom that type of pathology is present (for example fraction of tubers in the left hemisphere is only calculated for the patients who have tubers). TSC2p: TSC2 protein predicted. TSC2x: TSC2 protein predicted to be absent.