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Table 1 Demographics and age at diagnosis of all patients at enrolment

From: Disease and patient characteristics in NP-C patients: findings from an international disease registry

Characteristic n (%) Mean (SD) Median (range)
Overall patient population (n = 163)
Gender, male: female 84 (51.5): 79 (48.5)
Age at enrolment (yrs) 163 19.6 (13.0) 17.1 (0.9–64.1)
Patients with neurological manifestations (n =146)
Age at neurological onset (yrs): 145* 10.9 (9.8) 7.4 (0–48.0)
Early infantile (<2 yrs) 16 (11) 0.8 (0.6) 1.0 (0–1.6)
Late infantile (2 – <6 yrs) 45 (31) 4.2 (1.3) 4.5 (2.0–6.0)
Juvenile (6 – <15 yrs) 45 (31) 9.7 (2.8) 9.2 (6.0–14.8)
Adolescent/adult (≥15 yrs) 39 (27) 24.0 (8.9) 20.9 (15.0–48.0)
Age at diagnosis (yrs): 140 15.0 (12.2) 12.8 (0.1–53.9)
Early infantile (<2 yrs) 16 (12) 1.0 (1.0) 0.8 (0.1–4.0)
Late infantile (2 – <6 yrs) 43 (31) 8.2 (7.4) 6.1 (0.1–33.1)
Juvenile (6 – <15 yrs) 41 (30) 13.8 (5.0) 13.0 (0.4–26.6)
Adolescent/adult (≥15 yrs) 39 (28) 29.7 (10.0) 28.1 (14.4–53.9)
Patients with no neurological manifestations (n = 5)
Age at enrolment (yrs) 5 (3) 15.9 (14.6) 11.4 (4.3–40.9)
Age at diagnosis (yrs) 4 (2)# 12.4 (16.8) 5.3 (1.9–37.3)
History of systemic symptoms:
Neonatal jaundice, present 2 (40)
Hepatomegaly during infancy, present 1 (20)
Splenomegaly during infancy, present 2 (40)
  1. *One patient had missing age at neurological onset, five had no neurological manifestations and 12 had no available information regarding neurological manifestations. Six patients with missing age at diagnosis data; percentages calculated relative to total patients with available data for both age at diagnosis and age at neurological onset (N = 139); #age at diagnosis data missing in one patient.