Table 3 Diagnostic data of NPC patients
N (%) | |
|---|---|
NPC1 sequencing (n = 97) | |
c.3182T > C (p.I1061T) | 28 (28.6) |
c.3019C > G (p.P1007A) | 10 (10.2) |
c.3557G > A (p.R1186H) | 9 (9.2) |
Cholestane triol levels (n = 27) | |
Elevated | 23 (85) |
Borderline | 2 (7) |
Normal | 2 (7) |
Neuroimaging MRI (n = 49) | |
Normal | 29 (59) |
Abnormal | 20 (41) |
Cortical atrophy | 10 (50) |
Cerebellar atrophy | 9 (45) |
White matter change | 5(25) |
CT (n = 7) | |
Normal | 6 (86) |
Abnormal—cortical atrophy | 1 (14) |