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Table 4 NPC patients with juvenile (J) 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 F 0 1975 29y (†) NR A, Ds (13y) ND ND Y(AT) ND
2 M 0 1976 11y (†) NJa, HSm (1 m) PMRg (8y) ND ND Y(AT) ND
3 F S of 4/T4 1980 14y (†) NR Sp, Epi (7y) ND ND Y(AT) ND
4 M B of 3/T4 1981 20y (†) Sm (9y) LDs, Epi (9y) Y ND Y ND
5 F 0 1981 24y (†) HSm (8y) LDs, Tr (8y) Y ND Y ND
6 F S of 7/T4 1989 19y (†) NR A, PMRg (7y) Y Y(F/C) Y c.2196dupT/c.2861C>T
7y p.P733Sfs*9/p.S954L
7 F S of 6/T4 1989 33y (†) HSm (5y) A, Ds (9y) Y ND ND c.2196dupT/c.2861C>T
9y p.P733Sfs*9/p.S954L
8 F 0 1997 24y (†) NR Sp, Ds (14y) ND ND Y(AT) ND
9 F 0 1997 18y HSm (9 m) A, Ds, BDs (7y) Y Y(F/C) ND c.1421C>T/c.2072C>T
1y p.P474L/p.P691L
10 F S of 2/T5 1997 38y Sm (21y) A, Ds (13y) ND Y(F/C) ND c.1210delC/c.1990G>A
21y p.R404Gfs*45/p.V664M
11 M 0 1998 28y NR Epi, CDc (13y) Y Y(F/V) ND c.1232G>C/c.3019C>G
13y p.R411P/p.P1007A
12 M Cs of 20/T4 1998 21y Sm (4y) Ds (14y) ND Y(F/I) ND c.2861C>T/c.3557C>A
5y p.S954L/p.R1186H
13 M 0 1999 ?(†)/17y Sm (17y) LDs (7y) Y Y(F/I) ND c.2849T>G/c.3019C>G
17y p.V950G/p.P1007A
14 F S of 4/T3 2000 27y (†) Sm (7y) PMRg (7y) ND Y(F/V) Y(AT) c.352_353delAG/c.3019C>G
27y p.Q119Vfs*7/p.P1007A
15 F 0 2000 27y Sm (13y) LDs, A (9y) Y Y(F/I) ND c.1812dupT/c.2861C>T
13y p.A605Cfs*1/p.S954L
16 F 0 2002 25y (†) NR LDs, A, Dk (13y) ND ND Y(AT) c.1028G>A/c.3019C>G
25y p.G343E/p.P1007A
17 M 0 2003 35y Sm (23y) A, Ds (14y) Y Y(F/C) ND c.2861C>T/c.3557G>A
24y p.S954L/p.R1186H
18 M B of 5/T5 &6/T5 2005 23y Sm (14y) LDs,Ds (14y) ND Y(F/V) ND c.2780C>T/c.2780C>T
14y p.A927V/p.A927V
19 M 0 2006 27y Sm (19y) Ds, Epi (13y) Y ND ND c.1232G>C /c.2861C>T
19y p.R411P /p.S954L
20 F Cs of 12/T4 2007 23y Sm (18y) Ds, A (13y) Y ND ND c.2861C>T/c.3557G>A
18y p.S954L/p.R1186H
  1. A ataxia, AT autopsy, B brother, BDs behaviour disorder, BMS bone marrow smear, CDc cognitive decline, CE non-LDL-cholesterol esterification test, CEL LDL-cholesterol esterification test, Cs cousin, dg diagnosis, Dk dyskinesia, Ds dysarthria, Epi epilepsia, F female, F/C classical biochemical subtype using filipin + CEL, F/I intermediate biochemical subtype using filipin + CEL, F/V variant biochemical subtype using filipin + CEL, G gender, HSm hepatosplenomegaly, LDs learning disability, m months, M male, ND not done, NJa neonatal jaundice, NR not reported, PMRg psychomotoric regression, P order of patient at the category, S sister, Sb sibling, Sm splenomegaly, Sp spasticity, T table, Tr tremor, y years, Y yes, † patient deceased, *translation stop codon in 1-letter amino acide 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).