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Table 2 NPC patients with neonatal/early-infantile (N/EI) form of disease

From: Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

P G Sb/Cs Year of dg. Age at death (†)/age at last follow up First visceral symptoms (age) First neuro-psychiatric symptoms (age) BMS (Y/ND) Filipin and CEL or CE (Y/ND) Histology and AT (Y/ND) Mutations (NPC1/NPC2†)predicted effect on protein
Age at dg.
Neonatal rapidly fatal form
1 M B of 2/T2 1982 ?(†)/1 m NJa, Hp, HSm (1 m) NR Y ND Y ND
2 M B of 1/T2 1984 4 m (†) NJa, Hp, HSm (1 m) NR Y ND Y (AT) ND
3 M 0 1989 2 m (†) NJa, Hp, HSm (1 m) NR ND ND Y (AT) c.1261C>T/c.3614C>G††
<1y p.Q421*/p.T1205R
Early infantile form
4 F 0 1976 5y (†) HSm (1y) PMRt (6 m) ND ND Y (AT) ND
5 M 0 1981 5y (†) NJa, HSm (1 m) PMRt (1y) Y ND Y (AT) c.3557G>A/NDT
5y p.R1186H/NDT
6 M 0 1983 4y (†) NJa, Hp, HSm (1 m) PMRg (1y) Y ND Y (AT) ND
7 F 0 1985 11y (†) mild HSm (1 m) MRt (1y) Y Y (CE) Y c.3182T>C/c.3591+1G>A
1y p.I1061T/splice
8 F 0 1990 4y (†) HSm (20 m) PMRg (20 m) Y Y (F/C) ND c.1812dupT/c.3558delC
3y p.A605Cfs*1/p.A1187Rfs*54
9 F 0 1994 4y (†) tachypnoea (1 m) PMRt (1y) Y Y (F/C) Y (AT) NPC2: c.58G>T/c.58G>T
1y p.E20*/p.E20*†
10 F S of 10/T3 1997 ?(†)/5y NJa, HSm (1 m) SRt (22 m) Y Y (F/C) ND c.826T>C/c.3557G>A
5y p.Y276H/p.R1186H
11 F 0 2001 6y (†) Sm (2y) PMRg, A (22 m) Y Y (F/C) Y (AT) c.3557G>A/c.3614C>A
3y p.R1186H/p.T1205K
12 F S of 13/T3 2010 6y HSm (2y) PMRt, A (18 m) ND ND ND c.2196dupT /c.3557G>A p.P733Sfs*9 /p.R1186H
  1. A ataxia, AT autopsy; B brother, BMS bone marrow smear; CE non-LDL-cholesterol esterification test; CEL LDL-cholesterol esterification test; Cs cousins, dg diagnosis, F female, F/C classical biochemical subtype using filipin staining + CEL, G gender, Hp hepatopathy, HSm hepatosplenomegaly, m months, M male, MRt motoric retardation, ND not done, NDT not detected, NR not reported, NJa neonatal jaundice, P order of patient in the age-at-onset category, PMRg psychomotoric regression, PMRt psychomotoric retardation, S sister, Sb sibling, Sm splenomegaly, SRt speech retardation, T table, y years, † patient deceased,genotype refers to the NPC1 gene (patients 1–8 and 10–12), and to the NPC2 gene (patient 9),patient described previously[33],††genotype determined indirectly based on parents’ genotype. *translation stop codon in 1-letter amino acid code. Note: novel mutations are highlighted in bold font, and italics indicate decisive diagnostic method or methods (if they were performed simultaneously or in quick succession).