Table 4 Clinical disease characteristics of all patients
NP-C positive (two NPC1 mutations) (n = 10) | NP-C uncertain (one NPC1 mutation) (n = 8) | NP-C negative (n = 218) | |
|---|---|---|---|
Neurological symptoms, n (%) | |||
Vertical supranuclear gaze palsy (VSGP) | 3 (30%) | 3 (37.5%) | 58 (26.6%) |
Gelastic cataplexy | 0 (0%) | 0 (0%) | 7 (3.2%) |
Ataxia, clumsiness or frequent falls | 5 (50%) | 3 (37.5%) | 89 (40.8%) |
Dysarthria and/or dysphagia | 2 (20%) | 3 (37.5%) | 31 ((14.2%) |
Dystonia | 1 (10%) | 1 (12.5%) | 55 (25.2%) |
Psychiatric symptoms present, n (%) | |||
Pre-senile cognitive decline or dementia | 2 (20%) | 1 (12.5%) | 76 (34.9%) |
Psychotic symptoms (schizophrenia) | 1 (10%) | 0 (0%) | 19 (8.7%) |
Depression | 3 (30%) | 2 (25%) | 49 (22.5%) |
Bipolar disorders | 1 (10%) | 1 (12.5%) | 12 (5.5%) |
Visceral symptoms, n (%) | |||
Unexplained neonatal jaundice or cholestasis | 1 (10%) | 2 (25%) | 12 (5.5%) |
Unexplained splenomegaly ± hepatomegaly | 6 (60%) | 3 (37.5%) | 15 (6.9%) |
Hydrops fetalis or fetal ascites | 0 (0%) | 0 (0%) | 1 (0.5%) |