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) |