Table 3.
History of NP-C manifestations for all patients in the NPC Registry prior to enrollment
| Manifestation | N | Overall patients n (%) |
|---|---|---|
| Neurological manifestations | ||
| Ataxia | 448 | 304 (67.9) |
| Vertical supranuclear gaze palsy | 448 | 302 (67.4) |
| Dysarthria | 448 | 290 (64.7) |
| Cognitive impairment/learning difficulties/school failure | 448 | 281 (62.7) |
| Dysphagia | 448 | 220 (49.1) |
| Dystonia | 448 | 180 (40.2) |
| Seizures | 448 | 115 (25.7) |
| Clumsiness | 448 | 92 (20.5) |
| Cataplexy | 448 | 87 (19.4) |
| Behavioral disturbance | 448 | 63 (14.1) |
| Psychiatric manifestations | 448 | 50 (11.2) |
| Sleep disturbance | 448 | 36 (8.0) |
| Difficulties stepping down | 448 | 31 (6.9) |
| Horizontal gaze palsy | 448 | 22 (4.9) |
| Other | 448 | 21 (4.7) |
| Visceral manifestations in infancy | ||
| Splenomegaly | 398 | 199 (50.0) |
| Hepatomegaly | 397 | 147 (37.0) |
| Pulmonary infiltration | 448 | 24 (5.4) |
N Number of enrolled patients with evaluable data