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Table 3 NPC patients with late-infantile (LI) 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)Predicted effect on protein
Age at dg
1 M B of 2/T3 1975 11y (†) NR PMRt (3 y) ND ND Y (AT) ND
DPM
2 M B of 1/T3 1975 9y (†) NR SRt, Epi (3 y) ND ND Y (AT) ND
DPM
3 M 0 1975 8y (†) NR PMRg, Epi (3 y) ND ND Y (AT) ND
DPM
4 F S of 14/T4 1975 ? (†)/4y HSm (4 m) PMRg, A (4y) ND ND Y ND
4y
5 M 0 1981 5y (†) HSm (1 m) PMRt (3y) Y ND Y (AT) c.1421C>T/c.3557G>A††
3y p.P474L/p.R1186H
6 F 0 1988 19y (†) HSm (2y) PMRg (6y) Y Y (CE) Y c.2635_2636dupAT/ c.3019C>G
6y
p.Q881Vfs*56/p.P1007A
7 F 0 1990 11y (†) HSm (4y) A, Ds, GCt (4 y) Y Y (F/V) ND c.1029dupG/c.3019C>G
8y p.S344Vfs*35/p.P1007A
8 F 0 1993 12 (†) y NJa (1 m) A, Ds, Epi (4y) Y Y (F/C) ND c.3182T>C/NDT
10y p.I1061T/NDT
9 M 0 1995 22y (†) HSm (5y) PMRt (5y) Y Y (F/I) ND c.3019C>G/c.3557G>A
5y p.P1007A/p.R1186H
10 M B of 10/T2 1998 ?(†) /4y HSm (1 m) SRt (4 y) ND Y (F/C) ND c.826T>C/c.3557G>A
4y p.Y276H/p.R1186H
11 M 0 2004 10y HSm (7 m) A, GCt (4y) ND Y (F/C) ND c.3182T>C/c.3557G>A
4y p.I1061T/p.R1186H
12 M 0 2008 12 (†) Sm (6y) A, PMRg (3y) Y ND ND c.3557G>A/c.3557G>A
6y p.R1186H/p.R1186H
13 M B of 12/T2 2009 6y (†) NJa (1 m) A, GCt (4y) Y ND ND c.2196dupT /c.3557G>A
4y 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 cousin, dg diagnosis, DPM delayed post-mortem examination (in preserved tissues, Ds dysartria, Epi epilepsia, F female, F/C classical biochemical subtype using filipin staining + CEL, F/I intermediate biochemical subtype using filipin staining + CEL, F/V variant biochemical subtype using filipin staining + CEL, G gender, GCt gelastic cataplexy, HSm hepatosplenomegaly, m months, M male, ND not done, NDT not detected, NJa neonatal jaundice, NR not reported, P order of patient at the category; PMRg psychomotoric regression, PMRt psychomotoric retardation, S sister, Sb sibling, Sm splenomegaly, SRt speech retardation, T table, y years, Y Yes, † patient deceased, †† 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).