NP-C positive (two NPC1 mutations) (n = 10) | NP-C uncertain (one NPC1 mutation) (n = 8) | NP-C negative (n = 218) | |
---|---|---|---|
Age (years) | |||
Mean ± SD | 28 ± 21 | 28 ± 28 | 44 ± 22 |
Median (range) | 35 (1.4–62) | 21 (0.8–68) | 46 (0.03–83) |
Gender (n) | |||
Male | 4 | 6 | 126 |
Female | 6 | 2 | 92 |
NP-C SI (points) | |||
Mean ± SD | 129 ± 72.1 | 78.2 ± 27.1 | 58.9 ± 39.2 |
Median (range) | 145 (20–200) | 69.1 (55–120) | 55 (5–245) |
ChT activity (nmol/mL/h) | |||
Mean ± SD | 553 ± 479 | 187 ± 262 | 122 ± 423 |
Median (range) | 255 (75–1477) | 109 (24–771) | 53 (11–5149) |
CCL18 conc. (ng/mL) | |||
Mean ± SD | 481 ± 370 | 242 ± 179 | 95 ± 178 |
Median (range) | 266 (88–1137) | 198 (39–550) | (11–1513) |
7-KC (ng/mL) | |||
Mean ± SD | 351 ± 222 | 103 ± 91.20 | ND |
Median (range) | 249 (103–761) | 198 (<2–761) | |
Filipin staining (n) | |||
Classical | 3 | 2 | ND |
Variant | 1 | 6 | |
No data | 6 | 0 |