|
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
|
-
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).
