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Table 4 Clinical disease characteristics of all patients

From: Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

  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%)
  1. Including those from both Periods 1 and 2